Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120736988G>T , CM000674.2:g.120736988G>T | GRCh38 |
| NC_000012.11:g.121174791G>T , CM000674.1:g.121174791G>T | GRCh37 |
| NC_000012.10:g.119659174G>T | NCBI36 |
| NG_007991.1:g.16221G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.213G>T MANE Select | ENSP00000242592.4:p.Val71= | |
| ENST00000242592.8:c.213G>T | ENSP00000242592.4:p.Val71= | |
| ENST00000411593.2:c.213G>T | ENSP00000401045.2:p.Val71= | |
| ENST00000539690.1:n.325G>T | ||
| NM_000017.3:c.213G>T | NP_000008.1:p.Val71= | |
| NM_001302554.1:c.213G>T | NP_001289483.1:p.Val71= | |
| NM_000017.4:c.213G>T MANE Select | NP_000008.1:p.Val71= | |
| NM_001302554.2:c.213G>T | NP_001289483.1:p.Val71= |