Linked Data
dbSNP Id:
rs1130534
ExAC:
6:38650588 T / A
gnomAD v2:
6-38650588-T-A
gnomAD v3:
6-38682812-T-A
gnomAD v4:
6-38682812-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682812T>A , CM000668.2:g.38682812T>A | GRCh38 |
| NC_000006.11:g.38650588T>A , CM000668.1:g.38650588T>A | GRCh37 |
| NC_000006.10:g.38758566T>A | NCBI36 |
| NG_012074.1:g.25365A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373365.5:c.372A>T MANE Select | ENSP00000362463.3:p.Gly124= | |
| ENST00000373365.4:c.372A>T | ENSP00000362463.3:p.Gly124= | |
| ENST00000470973.1:n.404A>T | ||
| NM_006708.2:c.372A>T | NP_006699.2:p.Gly124= | |
| NM_006708.3:c.372A>T MANE Select | NP_006699.2:p.Gly124= |