Linked Data
dbSNP Id:
rs910324026
gnomAD v2:
1-115227103-T-A
gnomAD v3:
1-114684482-T-A
gnomAD v4:
1-114684482-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684482T>A , CM000663.2:g.114684482T>A | GRCh38 |
| NC_000001.10:g.115227103T>A , CM000663.1:g.115227103T>A | GRCh37 |
| NC_000001.9:g.115028626T>A | NCBI36 |
| NG_008012.1:g.16074A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.370-118A>T | ENSP00000358551.4:n.370-118A>T | |
| ENST00000520113.7:c.382-118A>T MANE Select | ENSP00000430075.3:n.382-118A>T | |
| ENST00000637080.1:c.385-118A>T | ENSP00000489753.1:n.385-118A>T | |
| ENST00000639077.1:n.8A>T | ||
| ENST00000369538.3:c.469-118A>T | ENSP00000358551.3:n.469-118A>T | |
| ENST00000485564.3:n.256-118A>T | ||
| ENST00000520113.6:c.481-118A>T | ENSP00000430075.2:n.481-118A>T | |
| NM_000036.2:c.481-118A>T | NP_000027.2:n.481-118A>T | |
| NM_001172626.1:c.469-118A>T | NP_001166097.1:n.469-118A>T | |
| NM_000036.3:c.382-118A>T MANE Select | NP_000027.3:n.382-118A>T | |
| NM_001172626.2:c.370-118A>T | NP_001166097.2:n.370-118A>T |