Linked Data
dbSNP Id:
rs1447720582
gnomAD v2:
10-101672235-C-A
gnomAD v3:
10-99912478-C-A
gnomAD v4:
10-99912478-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99912478C>A , CM000672.2:g.99912478C>A | GRCh38 |
| NC_000010.10:g.101672235C>A , CM000672.1:g.101672235C>A | GRCh37 |
| NC_000010.9:g.101662225C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324109.9:c.2261-3332G>T MANE Select | ENSP00000315659.4:n.2261-3332G>T | |
| ENST00000543621.6:c.124+1475G>T | ENSP00000443657.2:n.124+1475G>T | |
| ENST00000636706.1:c.1157-3332G>T | ENSP00000489875.1:n.1157-3332G>T | |
| ENST00000324109.8:c.2261-3332G>T | ENSP00000315659.4:n.2261-3332G>T | |
| ENST00000422692.1:c.124+1475G>T | ENSP00000409476.1:n.124+1475G>T | |
| ENST00000543621.5:c.-3+1475G>T | ENSP00000443657.1:n.-3+1475G>T | |
| NM_015221.2:c.2261-3332G>T | NP_056036.1:n.2261-3332G>T | |
| XM_006717735.2:c.2261-3332G>T | XP_006717798.1:n.2261-3332G>T | |
| XM_006717736.2:c.2261-3332G>T | XP_006717799.1:n.2261-3332G>T | |
| XM_011539559.1:c.2261-3332G>T | XP_011537861.1:n.2261-3332G>T | |
| XM_011539560.1:c.1157-3332G>T | XP_011537862.1:n.1157-3332G>T | |
| NM_001318326.1:c.1157-3332G>T | NP_001305255.1:n.1157-3332G>T | |
| NM_001318327.1:c.124+1475G>T | NP_001305256.1:n.124+1475G>T | |
| NM_015221.3:c.2261-3332G>T | NP_056036.1:n.2261-3332G>T | |
| XM_006717735.3:c.2261-3332G>T | XP_006717798.1:n.2261-3332G>T | |
| XM_011539559.2:c.2261-3332G>T | XP_011537861.1:n.2261-3332G>T | |
| NM_015221.4:c.2261-3332G>T MANE Select | NP_056036.1:n.2261-3332G>T | |
| NM_001318326.2:c.1157-3332G>T | NP_001305255.1:n.1157-3332G>T |