Linked Data
dbSNP Id:
rs376868011
ExAC:
12:53207746 C / T
gnomAD v2:
12-53207746-C-T
gnomAD v3:
12-52813962-C-T
gnomAD v4:
12-52813962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813962C>T , CM000674.2:g.52813962C>T | GRCh38 |
| NC_000012.11:g.53207746C>T , CM000674.1:g.53207746C>T | GRCh37 |
| NC_000012.10:g.51494013C>T | NCBI36 |
| NG_007380.1:g.5590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.97G>A MANE Select | ENSP00000448220.1:p.Val33Ile | |
| ENST00000548097.5:c.97G>A | ENSP00000449755.1:p.Val33Ile | |
| ENST00000551956.1:c.97G>A | ENSP00000448220.1:p.Val33Ile | |
| ENST00000552668.1:c.97G>A | ENSP00000447320.1:p.Val33Ile | |
| NM_002272.3:c.97G>A | NP_002263.3:p.Val33Ile | |
| NM_002272.4:c.97G>A MANE Select | NP_002263.3:p.Val33Ile |