Linked Data
ClinVar Variation Id:
1276722
ClinVar RCV Id:
RCV001687914
dbSNP Id:
rs2293971
gnomAD v2:
8-38284011-C-T
gnomAD v3:
8-38426493-C-T
gnomAD v4:
8-38426493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38426493C>T , CM000670.2:g.38426493C>T | GRCh38 |
| NC_000008.10:g.38284011C>T , CM000670.1:g.38284011C>T | GRCh37 |
| NC_000008.9:g.38403168C>T | NCBI36 |
| NG_007729.1:g.47342G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703405.1:c.616-248G>A | ENSP00000515291.1:n.616-248G>A | |
| ENST00000341462.9:c.616-248G>A | ENSP00000340636.7:n.616-248G>A | |
| ENST00000425967.8:c.616-248G>A | ENSP00000393312.4:n.616-248G>A | |
| ENST00000682770.1:n.93G>A | ||
| ENST00000683276.1:n.1583-248G>A | ||
| ENST00000683765.1:c.616-248G>A | ENSP00000507039.1:n.616-248G>A | |
| ENST00000683795.1:n.1331-248G>A | ||
| ENST00000683815.1:c.616-248G>A | ENSP00000507997.1:n.616-248G>A | |
| ENST00000683948.1:n.1316-248G>A | ||
| ENST00000684654.1:c.349-248G>A | ENSP00000507205.1:n.349-248G>A | |
| ENST00000447712.7:c.622-248G>A MANE Select | ENSP00000400162.2:n.622-248G>A | |
| ENST00000649678.1:c.616-248G>A | ENSP00000497266.1:n.616-248G>A | |
| ENST00000674189.1:c.*588+1428G>A | ENSP00000501345.1:n.*588+1428G>A | |
| ENST00000674235.1:c.258-248G>A | ||
| ENST00000674380.1:c.*589-248G>A | ENSP00000501514.1:n.*589-248G>A | |
| ENST00000674474.1:n.882-248G>A | ||
| ENST00000326324.10:c.349-248G>A | ENSP00000327229.6:n.349-248G>A | |
| ENST00000335922.9:c.598-248G>A | ENSP00000337247.5:n.598-248G>A | |
| ENST00000341462.8:c.625-248G>A | ENSP00000340636.6:n.625-248G>A | |
| ENST00000356207.9:c.355-248G>A | ENSP00000348537.5:n.355-248G>A | |
| ENST00000397091.9:c.616-248G>A | ENSP00000380280.5:n.616-248G>A | |
| ENST00000397103.5:c.349-248G>A | ENSP00000380292.1:n.349-248G>A | |
| ENST00000397108.8:c.616-248G>A | ENSP00000380297.4:n.616-248G>A | |
| ENST00000397113.6:c.616-248G>A | ENSP00000380302.2:n.616-248G>A | |
| ENST00000425967.7:c.715-248G>A | ENSP00000393312.3:n.715-248G>A | |
| ENST00000447712.6:c.622-248G>A | ENSP00000400162.2:n.622-248G>A | |
| ENST00000470826.5:n.771-248G>A | ||
| ENST00000474970.1:n.646-248G>A | ||
| ENST00000484370.5:c.760-248G>A | ENSP00000433163.1:n.760-248G>A | |
| ENST00000487647.5:c.499-248G>A | ENSP00000435254.1:n.499-248G>A | |
| ENST00000496296.5:n.1092-248G>A | ||
| ENST00000525001.5:c.622-248G>A | ENSP00000434712.1:n.622-248G>A | |
| ENST00000526570.5:n.2901-248G>A | ||
| ENST00000526742.5:c.349-248G>A | ENSP00000433569.1:n.349-248G>A | |
| ENST00000527203.5:n.384+1428G>A | ||
| ENST00000529552.5:c.355-248G>A | ENSP00000435283.1:n.355-248G>A | |
| ENST00000530701.1:n.178-4552G>A | ||
| ENST00000532386.5:n.585-248G>A | ||
| ENST00000532791.5:c.622-248G>A | ENSP00000432972.1:n.622-248G>A | |
| ENST00000533668.5:c.142-248G>A | ENSP00000434869.1:n.142-248G>A | |
| ENST00000619564.3:c.349-248G>A | ENSP00000484553.1:n.349-248G>A | |
| NM_001174063.1:c.622-248G>A | NP_001167534.1:n.622-248G>A | |
| NM_001174064.1:c.598-248G>A | NP_001167535.1:n.598-248G>A | |
| NM_001174065.1:c.616-248G>A | NP_001167536.1:n.616-248G>A | |
| NM_001174066.1:c.355-248G>A | NP_001167537.1:n.355-248G>A | |
| NM_001174067.1:c.715-248G>A | NP_001167538.1:n.715-248G>A | |
| NM_015850.3:c.616-248G>A | NP_056934.2:n.616-248G>A | |
| NM_023105.2:c.355-248G>A | NP_075593.1:n.355-248G>A | |
| NM_023106.2:c.349-248G>A | NP_075594.1:n.349-248G>A | |
| NM_023110.2:c.622-248G>A | NP_075598.2:n.622-248G>A | |
| XM_006716303.2:c.622-248G>A | XP_006716366.1:n.622-248G>A | |
| XM_006716304.1:c.622-248G>A | XP_006716367.1:n.622-248G>A | |
| XM_006716305.2:c.622-248G>A | XP_006716368.1:n.622-248G>A | |
| XM_006716306.2:c.616-248G>A | XP_006716369.1:n.616-248G>A | |
| XM_006716307.1:c.616-248G>A | XP_006716370.1:n.616-248G>A | |
| XM_006716309.2:c.598-248G>A | XP_006716372.1:n.598-248G>A | |
| XM_006716310.2:c.355-248G>A | XP_006716373.1:n.355-248G>A | |
| XM_006716311.1:c.355-248G>A | XP_006716374.1:n.355-248G>A | |
| XM_006716312.1:c.355-248G>A | XP_006716375.1:n.355-248G>A | |
| XM_006716313.2:c.349-248G>A | XP_006716376.1:n.349-248G>A | |
| XM_006716314.1:c.349-248G>A | XP_006716377.1:n.349-248G>A | |
| XM_011544443.1:c.721-248G>A | XP_011542745.1:n.721-248G>A | |
| XM_011544444.1:c.715-248G>A | XP_011542746.1:n.715-248G>A | |
| XM_011544445.1:c.721-248G>A | XP_011542747.1:n.721-248G>A | |
| XM_011544446.1:c.721-248G>A | XP_011542748.1:n.721-248G>A | |
| XM_011544447.1:c.721-248G>A | XP_011542749.1:n.721-248G>A | |
| XM_011544448.1:c.454-248G>A | XP_011542750.1:n.454-248G>A | |
| XM_011544449.1:c.448-248G>A | XP_011542751.1:n.448-248G>A | |
| XM_011544450.1:c.448-248G>A | XP_011542752.1:n.448-248G>A | |
| XM_011544451.1:c.331-248G>A | XP_011542753.1:n.331-248G>A | |
| XM_011544452.1:c.715-248G>A | XP_011542754.1:n.715-248G>A | |
| NM_001354367.1:c.616-248G>A | NP_001341296.1:n.616-248G>A | |
| NM_001354368.1:c.349-248G>A | NP_001341297.1:n.349-248G>A | |
| NM_001354369.1:c.616-248G>A | NP_001341298.1:n.616-248G>A | |
| NM_001354370.1:c.349-248G>A | NP_001341299.1:n.349-248G>A | |
| XM_006716303.3:c.622-248G>A | XP_006716366.1:n.622-248G>A | |
| XM_006716310.3:c.355-248G>A | XP_006716373.1:n.355-248G>A | |
| XM_006716312.2:c.355-248G>A | XP_006716375.1:n.355-248G>A | |
| XM_006716314.2:c.349-248G>A | XP_006716377.1:n.349-248G>A | |
| XM_011544443.2:c.721-248G>A | XP_011542745.1:n.721-248G>A | |
| XM_011544445.2:c.721-248G>A | XP_011542747.1:n.721-248G>A | |
| XM_011544446.2:c.721-248G>A | XP_011542748.1:n.721-248G>A | |
| XM_011544447.2:c.721-248G>A | XP_011542749.1:n.721-248G>A | |
| XM_011544450.2:c.448-248G>A | XP_011542752.1:n.448-248G>A | |
| XM_011544452.2:c.715-248G>A | XP_011542754.1:n.715-248G>A | |
| XM_017013219.1:c.715-248G>A | XP_016868708.1:n.715-248G>A | |
| XM_017013220.1:c.715-248G>A | XP_016868709.1:n.715-248G>A | |
| XM_017013221.1:c.622-248G>A | XP_016868710.1:n.622-248G>A | |
| XM_017013222.2:c.622-248G>A | XP_016868711.1:n.622-248G>A | |
| XM_017013224.2:c.616-248G>A | XP_016868713.1:n.616-248G>A | |
| XM_017013225.2:c.616-248G>A | XP_016868714.1:n.616-248G>A | |
| XM_017013226.1:c.454-248G>A | XP_016868715.1:n.454-248G>A | |
| XM_017013227.1:c.448-248G>A | XP_016868716.1:n.448-248G>A | |
| XM_017013230.1:c.-1579-248G>A | XP_016868719.1:n.-1579-248G>A | |
| XM_017013231.1:c.721-248G>A | XP_016868720.1:n.721-248G>A | |
| XM_024447097.1:c.598-248G>A | XP_024302865.1:n.598-248G>A | |
| XR_001745495.1:n.870-248G>A | ||
| XR_001745496.1:n.870-248G>A | ||
| NM_001174063.2:c.622-248G>A | NP_001167534.1:n.622-248G>A | |
| NM_001174064.2:c.598-248G>A | NP_001167535.1:n.598-248G>A | |
| NM_001174065.2:c.616-248G>A | NP_001167536.1:n.616-248G>A | |
| NM_001174066.2:c.355-248G>A | NP_001167537.1:n.355-248G>A | |
| NM_001354368.2:c.349-248G>A | NP_001341297.1:n.349-248G>A | |
| NM_015850.4:c.616-248G>A | NP_056934.2:n.616-248G>A | |
| NM_023105.3:c.355-248G>A | NP_075593.1:n.355-248G>A | |
| NM_023106.3:c.349-248G>A | NP_075594.1:n.349-248G>A | |
| NM_023110.3:c.622-248G>A MANE Select | NP_075598.2:n.622-248G>A | |
| NM_001174067.2:c.715-248G>A | NP_001167538.1:n.715-248G>A | |
| NM_001354367.2:c.616-248G>A | NP_001341296.1:n.616-248G>A | |
| NM_001354369.2:c.616-248G>A | NP_001341298.1:n.616-248G>A | |
| NM_001354370.2:c.349-248G>A | NP_001341299.1:n.349-248G>A |