Linked Data
dbSNP Id:
rs1867631
gnomAD v2:
1-67046126-C-A
gnomAD v3:
1-66580443-C-A
gnomAD v4:
1-66580443-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.66580443C>A , CM000663.2:g.66580443C>A | GRCh38 |
| NC_000001.10:g.67046126C>A , CM000663.1:g.67046126C>A | GRCh37 |
| NC_000001.9:g.66818714C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424320.6:c.-121-10027C>A | ENSP00000410439.2:n.-121-10027C>A | |
| ENST00000435165.3:c.11-45404C>A | ENSP00000395525.3:n.11-45404C>A | |
| ENST00000468286.6:n.355-45404C>A | ||
| ENST00000480548.6:c.11-45404C>A | ENSP00000508227.1:n.11-45404C>A | |
| ENST00000483060.2:n.217-45404C>A | ||
| ENST00000681971.1:c.11-45404C>A | ENSP00000507684.1:n.11-45404C>A | |
| ENST00000682054.1:c.11-45404C>A | ENSP00000508116.1:n.11-45404C>A | |
| ENST00000682150.1:c.11-45404C>A | ENSP00000507628.1:n.11-45404C>A | |
| ENST00000682270.1:c.11-31614C>A | ENSP00000507298.1:n.11-31614C>A | |
| ENST00000682293.1:c.11-45404C>A | ENSP00000506836.1:n.11-45404C>A | |
| ENST00000682416.1:c.11-45404C>A | ENSP00000507515.1:n.11-45404C>A | |
| ENST00000682419.1:c.11-45404C>A | ENSP00000508169.1:n.11-45404C>A | |
| ENST00000682476.1:c.11-45404C>A | ENSP00000507853.1:n.11-45404C>A | |
| ENST00000682519.1:c.11-45404C>A | ENSP00000507084.1:n.11-45404C>A | |
| ENST00000682707.1:c.11-45404C>A | ENSP00000506779.1:n.11-45404C>A | |
| ENST00000682762.1:c.-66-45404C>A | ENSP00000507231.1:n.-66-45404C>A | |
| ENST00000682816.1:c.11-45404C>A | ENSP00000507764.1:n.11-45404C>A | |
| ENST00000682901.1:c.11-45404C>A | ENSP00000507264.1:n.11-45404C>A | |
| ENST00000682938.1:c.11-45404C>A | ENSP00000507426.1:n.11-45404C>A | |
| ENST00000682981.1:c.11-45404C>A | ENSP00000507465.1:n.11-45404C>A | |
| ENST00000683067.1:c.11-45404C>A | ENSP00000507132.1:n.11-45404C>A | |
| ENST00000683207.1:c.11-31614C>A | ENSP00000507840.1:n.11-31614C>A | |
| ENST00000683257.1:c.11-45404C>A | ENSP00000507967.1:n.11-45404C>A | |
| ENST00000683291.1:c.11-45404C>A | ENSP00000507400.1:n.11-45404C>A | |
| ENST00000683311.1:c.11-45404C>A | ENSP00000506974.1:n.11-45404C>A | |
| ENST00000683499.1:c.11-45404C>A | ENSP00000506830.1:n.11-45404C>A | |
| ENST00000683581.1:c.11-45404C>A | ENSP00000507528.1:n.11-45404C>A | |
| ENST00000683604.1:c.11-45404C>A | ENSP00000508028.1:n.11-45404C>A | |
| ENST00000684083.1:c.11-45404C>A | ENSP00000506802.1:n.11-45404C>A | |
| ENST00000684168.1:c.11-45404C>A | ENSP00000507495.1:n.11-45404C>A | |
| ENST00000684178.1:c.11-45404C>A | ENSP00000507159.1:n.11-45404C>A | |
| ENST00000684539.1:c.11-45404C>A | ENSP00000507311.1:n.11-45404C>A | |
| ENST00000684651.1:c.11-45404C>A | ENSP00000507629.1:n.11-45404C>A | |
| ENST00000684664.1:c.11-45404C>A | ENSP00000508234.1:n.11-45404C>A | |
| ENST00000684750.1:c.11-45404C>A | ENSP00000507164.1:n.11-45404C>A | |
| ENST00000684751.1:c.11-45404C>A | ENSP00000507133.1:n.11-45404C>A | |
| ENST00000371037.9:c.11-45404C>A MANE Select | ENSP00000360076.3:n.11-45404C>A | |
| ENST00000237247.10:c.11-45404C>A | ENSP00000237247.6:n.11-45404C>A | |
| ENST00000371037.8:c.11-45404C>A | ENSP00000360076.3:n.11-45404C>A | |
| ENST00000371039.5:c.11-45404C>A | ENSP00000360078.1:n.11-45404C>A | |
| ENST00000424320.5:c.11-45404C>A | ENSP00000410439.1:n.11-45404C>A | |
| ENST00000468286.5:n.214-45404C>A | ||
| ENST00000493564.1:n.192-10027C>A | ||
| ENST00000497055.1:n.189-45404C>A | ||
| NM_001308203.1:c.11-45404C>A | NP_001295132.1:n.11-45404C>A | |
| NM_032291.2:c.11-45404C>A | NP_115667.2:n.11-45404C>A | |
| NM_032291.3:c.11-45404C>A | NP_115667.2:n.11-45404C>A | |
| XM_005271264.3:c.11-45404C>A | XP_005271321.1:n.11-45404C>A | |
| XM_005271265.3:c.11-45404C>A | XP_005271322.1:n.11-45404C>A | |
| XM_005271266.3:c.11-45404C>A | XP_005271323.1:n.11-45404C>A | |
| XM_005271268.3:c.11-45404C>A | XP_005271325.1:n.11-45404C>A | |
| XM_005271270.3:c.11-45404C>A | XP_005271327.1:n.11-45404C>A | |
| XM_006710961.2:c.11-45404C>A | XP_006711024.1:n.11-45404C>A | |
| XM_006710962.2:c.11-45404C>A | XP_006711025.1:n.11-45404C>A | |
| XM_006710963.2:c.11-45404C>A | XP_006711026.1:n.11-45404C>A | |
| XM_006710964.2:c.11-45404C>A | XP_006711027.1:n.11-45404C>A | |
| XM_006710965.2:c.11-45404C>A | XP_006711028.1:n.11-45404C>A | |
| XM_006710966.2:c.11-45404C>A | XP_006711029.1:n.11-45404C>A | |
| XM_006710967.2:c.11-45404C>A | XP_006711030.1:n.11-45404C>A | |
| XM_006710968.2:c.11-45404C>A | XP_006711031.1:n.11-45404C>A | |
| XM_006710969.2:c.11-45404C>A | XP_006711032.1:n.11-45404C>A | |
| XM_006710971.2:c.11-45404C>A | XP_006711034.1:n.11-45404C>A | |
| XM_006710972.2:c.11-45404C>A | XP_006711035.1:n.11-45404C>A | |
| XM_006710973.2:c.11-45404C>A | XP_006711036.1:n.11-45404C>A | |
| XM_006710974.2:c.11-45404C>A | XP_006711037.1:n.11-45404C>A | |
| XM_011542286.1:c.11-45404C>A | XP_011540588.1:n.11-45404C>A | |
| XM_011542287.1:c.11-45404C>A | XP_011540589.1:n.11-45404C>A | |
| XM_011542288.1:c.11-45404C>A | XP_011540590.1:n.11-45404C>A | |
| XM_011542289.1:c.11-45404C>A | XP_011540591.1:n.11-45404C>A | |
| XM_011542290.1:c.11-45404C>A | XP_011540592.1:n.11-45404C>A | |
| XM_011542291.1:c.11-45404C>A | XP_011540593.1:n.11-45404C>A | |
| XM_011542292.1:c.11-45404C>A | XP_011540594.1:n.11-45404C>A | |
| XM_011542293.1:c.11-45404C>A | XP_011540595.1:n.11-45404C>A | |
| XM_011542294.1:c.-568-45404C>A | XP_011540596.1:n.-568-45404C>A | |
| XM_011542295.1:c.11-45404C>A | XP_011540597.1:n.11-45404C>A | |
| NM_001350217.1:c.11-45404C>A | NP_001337146.1:n.11-45404C>A | |
| NM_001350218.1:c.11-45404C>A | NP_001337147.1:n.11-45404C>A | |
| XM_005271270.4:c.11-45404C>A | XP_005271327.1:n.11-45404C>A | |
| XM_017002505.1:c.11-45404C>A | XP_016857994.1:n.11-45404C>A | |
| XM_017002506.1:c.11-45404C>A | XP_016857995.1:n.11-45404C>A | |
| XM_017002507.1:c.11-45404C>A | XP_016857996.1:n.11-45404C>A | |
| XM_017002508.1:c.11-45404C>A | XP_016857997.1:n.11-45404C>A | |
| XM_017002509.1:c.11-45404C>A | XP_016857998.1:n.11-45404C>A | |
| XM_017002510.1:c.11-45404C>A | XP_016857999.1:n.11-45404C>A | |
| XM_017002511.1:c.11-45404C>A | XP_016858000.1:n.11-45404C>A | |
| XM_017002512.1:c.11-45404C>A | XP_016858001.1:n.11-45404C>A | |
| XM_017002513.1:c.11-45404C>A | XP_016858002.1:n.11-45404C>A | |
| XM_017002514.1:c.11-45404C>A | XP_016858003.1:n.11-45404C>A | |
| XM_017002515.1:c.11-45404C>A | XP_016858004.1:n.11-45404C>A | |
| XM_017002516.1:c.11-45404C>A | XP_016858005.1:n.11-45404C>A | |
| XM_017002517.1:c.11-45404C>A | XP_016858006.1:n.11-45404C>A | |
| XM_017002518.1:c.11-45404C>A | XP_016858007.1:n.11-45404C>A | |
| XM_017002519.1:c.11-45404C>A | XP_016858008.1:n.11-45404C>A | |
| XM_017002520.1:c.11-45404C>A | XP_016858009.1:n.11-45404C>A | |
| XM_017002521.1:c.11-45404C>A | XP_016858010.1:n.11-45404C>A | |
| XM_017002522.1:c.11-45404C>A | XP_016858011.1:n.11-45404C>A | |
| XM_017002523.1:c.11-45404C>A | XP_016858012.1:n.11-45404C>A | |
| XM_017002524.1:c.11-45404C>A | XP_016858013.1:n.11-45404C>A | |
| XM_017002525.2:c.11-45404C>A | XP_016858014.1:n.11-45404C>A | |
| XM_017002526.1:c.11-45404C>A | XP_016858015.1:n.11-45404C>A | |
| XM_017002527.1:c.11-45404C>A | XP_016858016.1:n.11-45404C>A | |
| XM_017002528.1:c.11-45404C>A | XP_016858017.1:n.11-45404C>A | |
| XM_017002529.1:c.11-45404C>A | XP_016858018.1:n.11-45404C>A | |
| XM_017002530.1:c.11-45404C>A | XP_016858019.1:n.11-45404C>A | |
| XM_017002532.1:c.11-45404C>A | XP_016858021.1:n.11-45404C>A | |
| XM_017002533.1:c.11-45404C>A | XP_016858022.1:n.11-45404C>A | |
| XM_017002534.1:c.11-45404C>A | XP_016858023.1:n.11-45404C>A | |
| XM_017002535.1:c.11-45404C>A | XP_016858024.1:n.11-45404C>A | |
| XM_017002536.1:c.11-45404C>A | XP_016858025.1:n.11-45404C>A | |
| XM_017002537.1:c.11-45404C>A | XP_016858026.1:n.11-45404C>A | |
| XM_024450227.1:c.11-45404C>A | XP_024305995.1:n.11-45404C>A | |
| XR_001737483.1:n.236-45404C>A | ||
| NM_032291.4:c.11-45404C>A MANE Select | NP_115667.2:n.11-45404C>A | |
| NM_001308203.2:c.11-45404C>A | NP_001295132.1:n.11-45404C>A | |
| NM_001350217.2:c.11-45404C>A | NP_001337146.1:n.11-45404C>A | |
| NM_001350218.2:c.11-45404C>A | NP_001337147.1:n.11-45404C>A | |
| NM_001376534.1:c.11-45404C>A | NP_001363463.1:n.11-45404C>A | |
| NM_001376535.1:c.11-45404C>A | NP_001363464.1:n.11-45404C>A | |
| NM_001376536.1:c.11-45404C>A | NP_001363465.1:n.11-45404C>A | |
| NM_001376537.1:c.11-45404C>A | NP_001363466.1:n.11-45404C>A | |
| NM_001376538.1:c.11-45404C>A | NP_001363467.1:n.11-45404C>A | |
| NM_001376539.1:c.11-45404C>A | NP_001363468.1:n.11-45404C>A | |
| NM_001376540.1:c.11-45404C>A | NP_001363469.1:n.11-45404C>A | |
| NM_001376541.1:c.11-45404C>A | NP_001363470.1:n.11-45404C>A | |
| NM_001376542.1:c.11-45404C>A | NP_001363471.1:n.11-45404C>A | |
| NM_001376543.1:c.11-45404C>A | NP_001363472.1:n.11-45404C>A | |
| NM_001376544.1:c.11-45404C>A | NP_001363473.1:n.11-45404C>A | |
| NM_001376545.1:c.11-45404C>A | NP_001363474.1:n.11-45404C>A | |
| NM_001376546.1:c.11-45404C>A | NP_001363475.1:n.11-45404C>A | |
| NM_001376547.1:c.11-45404C>A | NP_001363476.1:n.11-45404C>A | |
| NM_001376548.1:c.11-45404C>A | NP_001363477.1:n.11-45404C>A | |
| NM_001376549.1:c.11-45404C>A | NP_001363478.1:n.11-45404C>A | |
| NM_001376550.1:c.11-45404C>A | NP_001363479.1:n.11-45404C>A | |
| NM_001376551.1:c.11-45404C>A | NP_001363480.1:n.11-45404C>A | |
| NM_001376552.1:c.11-45404C>A | NP_001363481.1:n.11-45404C>A | |
| NM_001376554.1:c.11-45404C>A | NP_001363483.1:n.11-45404C>A | |
| NM_001376555.1:c.11-45404C>A | NP_001363484.1:n.11-45404C>A | |
| NM_001376556.1:c.11-45404C>A | NP_001363485.1:n.11-45404C>A | |
| NM_001376557.1:c.11-45404C>A | NP_001363486.1:n.11-45404C>A |