Linked Data
dbSNP Id:
rs149185126
ExAC:
7:99364931 G / A
gnomAD v2:
7-99364931-G-A
gnomAD v3:
7-99767308-G-A
gnomAD v4:
7-99767308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99767308G>A , CM000669.2:g.99767308G>A | GRCh38 |
| NC_000007.13:g.99364931G>A , CM000669.1:g.99364931G>A | GRCh37 |
| NC_000007.12:g.99202867G>A | NCBI36 |
| NG_008421.1:g.21878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.671-50C>T | ENSP00000337915.3:n.671-50C>T | |
| ENST00000651162.1:n.106-50C>T | ||
| ENST00000651514.1:c.671-50C>T MANE Select | ENSP00000498939.1:n.671-50C>T | |
| ENST00000651783.1:c.212-50C>T | ENSP00000498924.1:n.212-50C>T | |
| ENST00000652018.1:c.524-50C>T | ENSP00000498733.1:n.524-50C>T | |
| ENST00000336411.6:c.671-50C>T | ENSP00000337915.2:n.671-50C>T | |
| ENST00000354593.6:c.221-50C>T | ENSP00000346607.2:n.221-50C>T | |
| NM_001202855.2:c.671-53C>T | NP_001189784.1:n.671-53C>T | |
| NM_017460.5:c.671-50C>T | NP_059488.2:n.671-50C>T | |
| XM_011515841.1:c.671-50C>T | XP_011514143.1:n.671-50C>T | |
| XM_011515842.1:c.671-53C>T | XP_011514144.1:n.671-53C>T | |
| NM_017460.6:c.671-50C>T MANE Select | NP_059488.2:n.671-50C>T | |
| NM_001202855.3:c.671-53C>T | NP_001189784.1:n.671-53C>T |