Linked Data
dbSNP Id:
rs2289591
ExAC:
17:8048010 C / A
gnomAD v2:
17-8048010-C-A
gnomAD v3:
17-8144692-C-A
gnomAD v4:
17-8144692-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8144692C>A , CM000679.2:g.8144692C>A | GRCh38 |
| NC_000017.10:g.8048010C>A , CM000679.1:g.8048010C>A | GRCh37 |
| NC_000017.9:g.7988735C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317276.9:c.2461+59G>T MANE Select | ENSP00000314420.4:n.2461+59G>T | |
| ENST00000317276.8:c.2461+59G>T | ENSP00000314420.4:n.2461+59G>T | |
| ENST00000354903.9:c.2472G>T | ENSP00000346979.5:p.Trp824Cys | |
| ENST00000578089.1:n.394+59G>T | ||
| ENST00000578950.1:n.420+59G>T | ||
| ENST00000581082.5:c.2392+68G>T | ENSP00000462064.1:n.2392+68G>T | |
| ENST00000581395.5:c.*515G>T | ENSP00000464696.1:n.*515G>T | |
| ENST00000582719.5:c.2461+59G>T | ENSP00000463054.1:n.2461+59G>T | |
| ENST00000583559.1:c.310+59G>T | ENSP00000463369.1:n.310+59G>T | |
| NM_002616.2:c.2461+59G>T | NP_002607.2:n.2461+59G>T | |
| XM_005256689.1:c.2461+59G>T | XP_005256746.1:n.2461+59G>T | |
| XM_005256690.1:c.2281+59G>T | XP_005256747.1:n.2281+59G>T | |
| XM_005256689.2:c.2461+59G>T | XP_005256746.1:n.2461+59G>T | |
| XM_024450803.1:c.2340G>T | XP_024306571.1:p.Trp780Cys | |
| NM_002616.3:c.2461+59G>T MANE Select | NP_002607.2:n.2461+59G>T |