Linked Data
gnomAD v4:
12-52813961-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52813961A>G , CM000674.2:g.52813961A>G | GRCh38 |
| NC_000012.11:g.53207745A>G , CM000674.1:g.53207745A>G | GRCh37 |
| NC_000012.10:g.51494012A>G | NCBI36 |
| NG_007380.1:g.5591T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.98T>C MANE Select | ENSP00000448220.1:p.Val33Ala | |
| ENST00000548097.5:c.98T>C | ENSP00000449755.1:p.Val33Ala | |
| ENST00000551956.1:c.98T>C | ENSP00000448220.1:p.Val33Ala | |
| ENST00000552668.1:c.98T>C | ENSP00000447320.1:p.Val33Ala | |
| NM_002272.3:c.98T>C | NP_002263.3:p.Val33Ala | |
| NM_002272.4:c.98T>C MANE Select | NP_002263.3:p.Val33Ala |