Linked Data
ClinVar Variation Id:
374696
dbSNP Id:
rs1057519205
gnomAD v2:
6-72974756-G-A
gnomAD v4:
6-72265053-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.72265053G>A , CM000668.2:g.72265053G>A | GRCh38 |
| NC_000006.11:g.72974756G>A , CM000668.1:g.72974756G>A | GRCh37 |
| NC_000006.10:g.73031477G>A | NCBI36 |
| NG_016209.1:g.383107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697193.1:c.3117-907G>A | ENSP00000513179.1:n.3117-907G>A | |
| ENST00000521978.6:c.3194+1G>A MANE Select | ENSP00000428417.1:n.3194+1G>A | |
| ENST00000264839.11:c.3194+1G>A | ENSP00000264839.7:n.3194+1G>A | |
| ENST00000370420.8:c.792-907G>A | ENSP00000359448.4:n.792-907G>A | |
| ENST00000401910.7:c.1536-907G>A | ENSP00000385649.3:n.1536-907G>A | |
| ENST00000425662.6:c.1296-907G>A | ENSP00000411235.2:n.1296-907G>A | |
| ENST00000453976.6:c.1232+5942G>A | ENSP00000389503.2:n.1232+5942G>A | |
| ENST00000463023.6:n.69+4286G>A | ||
| ENST00000491071.6:c.3117-907G>A | ENSP00000430101.1:n.3117-907G>A | |
| ENST00000517433.5:c.1773+5942G>A | ||
| ENST00000517827.5:c.1494-907G>A | ENSP00000428367.1:n.1494-907G>A | |
| ENST00000517960.5:c.3113+4286G>A | ENSP00000429959.1:n.3113+4286G>A | |
| ENST00000518273.5:c.3117-907G>A | ENSP00000430408.1:n.3117-907G>A | |
| ENST00000520567.5:c.3114-907G>A | ENSP00000430502.1:n.3114-907G>A | |
| ENST00000521978.5:c.3194+1G>A | ENSP00000428417.1:n.3194+1G>A | |
| ENST00000522211.5:c.388+4286G>A | ||
| ENST00000522291.5:c.3050+5942G>A | ENSP00000430932.1:n.3050+5942G>A | |
| ENST00000523963.5:c.1539-907G>A | ENSP00000428328.1:n.1539-907G>A | |
| ENST00000524197.1:n.1923-907G>A | ||
| NM_001168407.1:c.1536-907G>A | NP_001161879.1:n.1536-907G>A | |
| NM_001168408.1:c.1539-907G>A | NP_001161880.1:n.1539-907G>A | |
| NM_001168409.1:c.1296-907G>A | NP_001161881.1:n.1296-907G>A | |
| NM_001168410.1:c.1494-907G>A | NP_001161882.1:n.1494-907G>A | |
| NM_014989.5:c.3194+1G>A | NP_055804.2:n.3194+1G>A | |
| XM_005248688.2:c.3117-907G>A | XP_005248745.1:n.3117-907G>A | |
| XM_011535602.1:c.1536-907G>A | XP_011533904.1:n.1536-907G>A | |
| XM_011535603.1:c.1472+5942G>A | XP_011533905.1:n.1472+5942G>A | |
| XM_011535604.1:c.1533-907G>A | XP_011533906.1:n.1533-907G>A | |
| XM_011535605.1:c.3194+1G>A | XP_011533907.1:n.3194+1G>A | |
| XM_011535606.1:c.1536-907G>A | XP_011533908.1:n.1536-907G>A | |
| XM_011535607.1:c.1535+4286G>A | XP_011533909.1:n.1535+4286G>A | |
| XM_011535608.1:c.1472+5942G>A | XP_011533910.1:n.1472+5942G>A | |
| XM_011535609.1:c.1532+4286G>A | XP_011533911.1:n.1532+4286G>A | |
| XM_011535610.1:c.1472+5942G>A | XP_011533912.1:n.1472+5942G>A | |
| XM_011535611.1:c.1469+5942G>A | XP_011533913.1:n.1469+5942G>A | |
| XM_011535612.1:c.1536-907G>A | XP_011533914.1:n.1536-907G>A | |
| XM_011535613.1:c.1536-907G>A | XP_011533915.1:n.1536-907G>A | |
| XM_011535615.1:c.1533-907G>A | XP_011533917.1:n.1533-907G>A | |
| XM_011535616.1:c.1535+4286G>A | XP_011533918.1:n.1535+4286G>A | |
| XM_011535617.1:c.1469+5942G>A | XP_011533919.1:n.1469+5942G>A | |
| NM_001350414.1:c.1539-907G>A | NP_001337343.1:n.1539-907G>A | |
| NM_001350415.1:c.1536-907G>A | NP_001337344.1:n.1536-907G>A | |
| NM_001350416.1:c.1539-907G>A | NP_001337345.1:n.1539-907G>A | |
| NM_001350417.1:c.1539-907G>A | NP_001337346.1:n.1539-907G>A | |
| NM_001350418.1:c.1613+1G>A | NP_001337347.1:n.1613+1G>A | |
| NM_001350419.1:c.1472+5942G>A | NP_001337348.1:n.1472+5942G>A | |
| NM_001350420.1:c.1539-907G>A | NP_001337349.1:n.1539-907G>A | |
| NM_001350421.1:c.1467-907G>A | NP_001337350.1:n.1467-907G>A | |
| NM_001350422.1:c.1536-907G>A | NP_001337351.1:n.1536-907G>A | |
| NM_001350423.1:c.1472+5942G>A | NP_001337352.1:n.1472+5942G>A | |
| NM_001350424.1:c.1470-907G>A | NP_001337353.1:n.1470-907G>A | |
| NM_001350425.1:c.1536-907G>A | NP_001337354.1:n.1536-907G>A | |
| NM_001350426.1:c.1475+5942G>A | NP_001337355.1:n.1475+5942G>A | |
| NM_001350427.1:c.1536-907G>A | NP_001337356.1:n.1536-907G>A | |
| NM_001350428.1:c.1470-907G>A | NP_001337357.1:n.1470-907G>A | |
| NM_001350429.1:c.1475+5942G>A | NP_001337358.1:n.1475+5942G>A | |
| NM_001350430.1:c.1467-907G>A | NP_001337359.1:n.1467-907G>A | |
| NM_001350431.1:c.1538+4286G>A | NP_001337360.1:n.1538+4286G>A | |
| NM_001350432.1:c.1535+4286G>A | NP_001337361.1:n.1535+4286G>A | |
| NM_001350433.1:c.1539-907G>A | NP_001337362.1:n.1539-907G>A | |
| NM_001350434.1:c.1613+1G>A | NP_001337363.1:n.1613+1G>A | |
| NM_001350435.1:c.1473-907G>A | NP_001337364.1:n.1473-907G>A | |
| NM_001350436.1:c.1613+1G>A | NP_001337365.1:n.1613+1G>A | |
| NM_001350437.1:c.1467-907G>A | NP_001337366.1:n.1467-907G>A | |
| NM_001350438.1:c.1536-907G>A | NP_001337367.1:n.1536-907G>A | |
| NM_001350439.1:c.1539-907G>A | NP_001337368.1:n.1539-907G>A | |
| NM_001350440.1:c.1472+5942G>A | NP_001337369.1:n.1472+5942G>A | |
| NM_001350441.1:c.1536-907G>A | NP_001337370.1:n.1536-907G>A | |
| NM_001350442.1:c.1539-907G>A | NP_001337371.1:n.1539-907G>A | |
| NM_001350443.1:c.1536-907G>A | NP_001337372.1:n.1536-907G>A | |
| NM_001350444.1:c.1472+5942G>A | NP_001337373.1:n.1472+5942G>A | |
| NM_001350445.1:c.1536-907G>A | NP_001337374.1:n.1536-907G>A | |
| NM_001350446.1:c.1539-907G>A | NP_001337375.1:n.1539-907G>A | |
| NM_001350447.1:c.1472+5942G>A | NP_001337376.1:n.1472+5942G>A | |
| NM_001350448.1:c.1539-907G>A | NP_001337377.1:n.1539-907G>A | |
| NM_001350449.1:c.1535+4286G>A | NP_001337378.1:n.1535+4286G>A | |
| NM_001350450.1:c.1467-907G>A | NP_001337379.1:n.1467-907G>A | |
| NM_001350452.1:c.1539-907G>A | NP_001337381.1:n.1539-907G>A | |
| NM_001350454.1:c.1535+4286G>A | NP_001337383.1:n.1535+4286G>A | |
| NM_001350455.1:c.1475+5942G>A | NP_001337384.1:n.1475+5942G>A | |
| NM_001350456.1:c.1536-907G>A | NP_001337385.1:n.1536-907G>A | |
| NM_001350457.1:c.1476-907G>A | NP_001337386.1:n.1476-907G>A | |
| NM_001350458.1:c.1616+1G>A | NP_001337387.1:n.1616+1G>A | |
| NM_001350459.1:c.1470-907G>A | NP_001337388.1:n.1470-907G>A | |
| NM_001350460.1:c.1475+5942G>A | NP_001337389.1:n.1475+5942G>A | |
| NM_001350461.1:c.1293-907G>A | NP_001337390.1:n.1293-907G>A | |
| NM_001350462.1:c.1470-907G>A | NP_001337391.1:n.1470-907G>A | |
| NM_001350463.1:c.1293-907G>A | NP_001337392.1:n.1293-907G>A | |
| NM_001350464.1:c.1296-907G>A | NP_001337393.1:n.1296-907G>A | |
| NM_001350465.1:c.1296-907G>A | NP_001337394.1:n.1296-907G>A | |
| NM_001350466.1:c.1296-907G>A | NP_001337395.1:n.1296-907G>A | |
| NM_001350467.1:c.1232+5942G>A | NP_001337396.1:n.1232+5942G>A | |
| NM_001350468.1:c.1229+5942G>A | NP_001337397.1:n.1229+5942G>A | |
| NM_001350469.1:c.1296-907G>A | NP_001337398.1:n.1296-907G>A | |
| NM_001350470.1:c.1571+1G>A | NP_001337399.1:n.1571+1G>A | |
| NM_001350471.1:c.1466+4286G>A | NP_001337400.1:n.1466+4286G>A | |
| NM_001350472.1:c.1491-907G>A | NP_001337401.1:n.1491-907G>A | |
| NM_001350473.1:c.1494-907G>A | NP_001337402.1:n.1494-907G>A | |
| NM_001350474.1:c.1430+5942G>A | NP_001337403.1:n.1430+5942G>A | |
| XM_005248688.4:c.3117-907G>A | XP_005248745.1:n.3117-907G>A | |
| XM_011535604.3:c.3114-907G>A | XP_011533906.2:n.3114-907G>A | |
| XM_017010516.2:c.3116+4286G>A | XP_016866005.1:n.3116+4286G>A | |
| XM_017010517.2:c.3117-907G>A | XP_016866006.1:n.3117-907G>A | |
| XM_017010518.2:c.3114-907G>A | XP_016866007.1:n.3114-907G>A | |
| XM_017010519.2:c.3116+4286G>A | XP_016866008.1:n.3116+4286G>A | |
| XM_017010520.2:c.3117-907G>A | XP_016866009.1:n.3117-907G>A | |
| XM_017010521.2:c.3116+4286G>A | XP_016866010.1:n.3116+4286G>A | |
| XM_017010522.2:c.3117-907G>A | XP_016866011.1:n.3117-907G>A | |
| XM_017010523.2:c.3117-907G>A | XP_016866012.1:n.3117-907G>A | |
| XM_017010524.2:c.3114-907G>A | XP_016866013.1:n.3114-907G>A | |
| XM_017010525.2:c.3116+4286G>A | XP_016866014.1:n.3116+4286G>A | |
| XM_017010526.2:c.3053+5942G>A | XP_016866015.1:n.3053+5942G>A | |
| XM_017010527.2:c.3114-907G>A | XP_016866016.1:n.3114-907G>A | |
| XM_017010537.2:c.1539-907G>A | XP_016866026.1:n.1539-907G>A | |
| XM_017010544.2:c.1472+5942G>A | XP_016866033.1:n.1472+5942G>A | |
| XM_017010546.2:c.1539-907G>A | XP_016866035.1:n.1539-907G>A | |
| XM_017010557.2:c.-380-907G>A | XP_016866046.1:n.-380-907G>A | |
| XM_017010558.2:c.-452-907G>A | XP_016866047.1:n.-452-907G>A | |
| XM_024446369.1:c.3114-907G>A | XP_024302137.1:n.3114-907G>A | |
| XM_024446370.1:c.3114-907G>A | XP_024302138.1:n.3114-907G>A | |
| XM_024446371.1:c.3117-907G>A | XP_024302139.1:n.3117-907G>A | |
| XM_024446372.1:c.1536-907G>A | XP_024302140.1:n.1536-907G>A | |
| NM_001168407.2:c.1536-907G>A | NP_001161879.1:n.1536-907G>A | |
| NM_001168408.2:c.1539-907G>A | NP_001161880.1:n.1539-907G>A | |
| NM_001168409.2:c.1296-907G>A | NP_001161881.1:n.1296-907G>A | |
| NM_001168410.2:c.1494-907G>A | NP_001161882.1:n.1494-907G>A | |
| NM_001350414.2:c.1539-907G>A | NP_001337343.1:n.1539-907G>A | |
| NM_001350415.2:c.1536-907G>A | NP_001337344.1:n.1536-907G>A | |
| NM_001350416.2:c.1539-907G>A | NP_001337345.1:n.1539-907G>A | |
| NM_001350417.2:c.1539-907G>A | NP_001337346.1:n.1539-907G>A | |
| NM_001350418.2:c.1613+1G>A | NP_001337347.1:n.1613+1G>A | |
| NM_001350419.2:c.1472+5942G>A | NP_001337348.1:n.1472+5942G>A | |
| NM_001350420.2:c.1539-907G>A | NP_001337349.1:n.1539-907G>A | |
| NM_001350421.2:c.1467-907G>A | NP_001337350.1:n.1467-907G>A | |
| NM_001350422.2:c.1536-907G>A | NP_001337351.1:n.1536-907G>A | |
| NM_001350423.2:c.1472+5942G>A | NP_001337352.1:n.1472+5942G>A | |
| NM_001350424.2:c.1470-907G>A | NP_001337353.1:n.1470-907G>A | |
| NM_001350425.2:c.1536-907G>A | NP_001337354.1:n.1536-907G>A | |
| NM_001350426.2:c.1475+5942G>A | NP_001337355.1:n.1475+5942G>A | |
| NM_001350427.2:c.1536-907G>A | NP_001337356.1:n.1536-907G>A | |
| NM_001350428.2:c.1470-907G>A | NP_001337357.1:n.1470-907G>A | |
| NM_001350429.2:c.1475+5942G>A | NP_001337358.1:n.1475+5942G>A | |
| NM_001350430.2:c.1467-907G>A | NP_001337359.1:n.1467-907G>A | |
| NM_001350431.2:c.1538+4286G>A | NP_001337360.1:n.1538+4286G>A | |
| NM_001350432.2:c.1535+4286G>A | NP_001337361.1:n.1535+4286G>A | |
| NM_001350433.2:c.1539-907G>A | NP_001337362.1:n.1539-907G>A | |
| NM_001350434.2:c.1613+1G>A | NP_001337363.1:n.1613+1G>A | |
| NM_001350435.2:c.1473-907G>A | NP_001337364.1:n.1473-907G>A | |
| NM_001350436.2:c.1613+1G>A | NP_001337365.1:n.1613+1G>A | |
| NM_001350437.2:c.1467-907G>A | NP_001337366.1:n.1467-907G>A | |
| NM_001350438.2:c.1536-907G>A | NP_001337367.1:n.1536-907G>A | |
| NM_001350439.2:c.1539-907G>A | NP_001337368.1:n.1539-907G>A | |
| NM_001350440.2:c.1472+5942G>A | NP_001337369.1:n.1472+5942G>A | |
| NM_001350441.2:c.1536-907G>A | NP_001337370.1:n.1536-907G>A | |
| NM_001350442.2:c.1539-907G>A | NP_001337371.1:n.1539-907G>A | |
| NM_001350443.2:c.1536-907G>A | NP_001337372.1:n.1536-907G>A | |
| NM_001350444.2:c.1472+5942G>A | NP_001337373.1:n.1472+5942G>A | |
| NM_001350445.2:c.1536-907G>A | NP_001337374.1:n.1536-907G>A | |
| NM_001350446.2:c.1539-907G>A | NP_001337375.1:n.1539-907G>A | |
| NM_001350447.2:c.1472+5942G>A | NP_001337376.1:n.1472+5942G>A | |
| NM_001350448.2:c.1539-907G>A | NP_001337377.1:n.1539-907G>A | |
| NM_001350449.2:c.1535+4286G>A | NP_001337378.1:n.1535+4286G>A | |
| NM_001350450.2:c.1467-907G>A | NP_001337379.1:n.1467-907G>A | |
| NM_001350452.2:c.1539-907G>A | NP_001337381.1:n.1539-907G>A | |
| NM_001350454.2:c.1535+4286G>A | NP_001337383.1:n.1535+4286G>A | |
| NM_001350455.2:c.1475+5942G>A | NP_001337384.1:n.1475+5942G>A | |
| NM_001350456.2:c.1536-907G>A | NP_001337385.1:n.1536-907G>A | |
| NM_001350457.2:c.1476-907G>A | NP_001337386.1:n.1476-907G>A | |
| NM_001350458.2:c.1616+1G>A | NP_001337387.1:n.1616+1G>A | |
| NM_001350459.2:c.1470-907G>A | NP_001337388.1:n.1470-907G>A | |
| NM_001350460.2:c.1475+5942G>A | NP_001337389.1:n.1475+5942G>A | |
| NM_001350461.2:c.1293-907G>A | NP_001337390.1:n.1293-907G>A | |
| NM_001350462.2:c.1470-907G>A | NP_001337391.1:n.1470-907G>A | |
| NM_001350463.2:c.1293-907G>A | NP_001337392.1:n.1293-907G>A | |
| NM_001350464.2:c.1296-907G>A | NP_001337393.1:n.1296-907G>A | |
| NM_001350465.2:c.1296-907G>A | NP_001337394.1:n.1296-907G>A | |
| NM_001350466.2:c.1296-907G>A | NP_001337395.1:n.1296-907G>A | |
| NM_001350467.2:c.1232+5942G>A | NP_001337396.1:n.1232+5942G>A | |
| NM_001350468.2:c.1229+5942G>A | NP_001337397.1:n.1229+5942G>A | |
| NM_001350469.2:c.1296-907G>A | NP_001337398.1:n.1296-907G>A | |
| NM_001350470.2:c.1571+1G>A | NP_001337399.1:n.1571+1G>A | |
| NM_001350471.2:c.1466+4286G>A | NP_001337400.1:n.1466+4286G>A | |
| NM_001350472.2:c.1491-907G>A | NP_001337401.1:n.1491-907G>A | |
| NM_001350473.2:c.1494-907G>A | NP_001337402.1:n.1494-907G>A | |
| NM_001350474.2:c.1430+5942G>A | NP_001337403.1:n.1430+5942G>A | |
| NM_014989.7:c.3194+1G>A MANE Select | NP_055804.2:n.3194+1G>A |