Linked Data
dbSNP Id:
rs1626678
gnomAD v2:
10-118576146-G-A
gnomAD v3:
10-116816635-G-A
gnomAD v4:
10-116816635-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.116816635G>A , CM000672.2:g.116816635G>A | GRCh38 |
| NC_000010.10:g.118576146G>A , CM000672.1:g.118576146G>A | GRCh37 |
| NC_000010.9:g.118566136G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635765.1:c.91+18300C>T | ENSP00000489674.1:n.91+18300C>T | |
| ENST00000674167.1:c.-124+18300C>T | ENSP00000501417.1:n.-124+18300C>T | |
| ENST00000674197.1:c.88+18300C>T | ENSP00000501472.1:n.88+18300C>T | |
| ENST00000674401.1:c.-210+32931C>T | ENSP00000501414.1:n.-210+32931C>T | |
| ENST00000674505.1:c.-210+32931C>T | ENSP00000501396.1:n.-210+32931C>T | |
| XM_005269672.2:c.91+18300C>T | XP_005269729.1:n.91+18300C>T | |
| XM_005269673.3:c.88+18300C>T | XP_005269730.1:n.88+18300C>T | |
| XM_011539579.1:c.88+18300C>T | XP_011537881.1:n.88+18300C>T | |
| NM_001330164.1:c.91+18300C>T | NP_001317093.1:n.91+18300C>T | |
| XM_005269673.5:c.88+18300C>T | XP_005269730.1:n.88+18300C>T | |
| XM_011539579.2:c.88+18300C>T | XP_011537881.1:n.88+18300C>T | |
| NM_001330164.2:c.91+18300C>T | NP_001317093.1:n.91+18300C>T |