Linked Data
dbSNP Id:
rs757149909
ExAC:
12:6153460 G / A
gnomAD v2:
12-6153460-G-A
gnomAD v4:
12-6044294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6044294G>A , CM000674.2:g.6044294G>A | GRCh38 |
| NC_000012.11:g.6153460G>A , CM000674.1:g.6153460G>A | GRCh37 |
| NC_000012.10:g.6023721G>A | NCBI36 |
| NG_009072.1:g.85377C>T | |
| NG_009072.2:g.85377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2439C>T MANE Select | ENSP00000261405.5:p.Gly813= | |
| ENST00000261405.9:c.2439C>T | ENSP00000261405.5:p.Gly813= | |
| ENST00000538635.5:n.421-50360C>T | ||
| NM_000552.3:c.2439C>T | NP_000543.2:p.Gly813= | |
| NM_000552.4:c.2439C>T | NP_000543.2:p.Gly813= | |
| NM_000552.5:c.2439C>T MANE Select | NP_000543.3:p.Gly813= |