Linked Data
dbSNP Id:
rs761074216
ExAC:
12:53207752 T / A
gnomAD v2:
12-53207752-T-A
gnomAD v4:
12-52813968-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813968T>A , CM000674.2:g.52813968T>A | GRCh38 |
| NC_000012.11:g.53207752T>A , CM000674.1:g.53207752T>A | GRCh37 |
| NC_000012.10:g.51494019T>A | NCBI36 |
| NG_007380.1:g.5584A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.91A>T MANE Select | ENSP00000448220.1:p.Ser31Cys | |
| ENST00000548097.5:c.91A>T | ENSP00000449755.1:p.Ser31Cys | |
| ENST00000551956.1:c.91A>T | ENSP00000448220.1:p.Ser31Cys | |
| ENST00000552668.1:c.91A>T | ENSP00000447320.1:p.Ser31Cys | |
| NM_002272.3:c.91A>T | NP_002263.3:p.Ser31Cys | |
| NM_002272.4:c.91A>T MANE Select | NP_002263.3:p.Ser31Cys |