Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67009087G>T , CM000663.2:g.67009087G>T | GRCh38 |
| NC_000001.10:g.67474770G>T , CM000663.1:g.67474770G>T | GRCh37 |
| NC_000001.9:g.67247358G>T | NCBI36 |
| NG_012933.1:g.50311C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.957C>A MANE Select | ENSP00000235345.5:p.Ile319= | |
| ENST00000235345.5:c.957C>A | ENSP00000235345.5:p.Ile319= | |
| NM_015139.2:c.957C>A | NP_055954.1:p.Ile319= | |
| XM_006710478.1:c.1038C>A | XP_006710541.1:p.Ile346= | |
| XM_011541070.1:c.1038C>A | XP_011539372.1:p.Ile346= | |
| XM_006710478.2:c.1038C>A | XP_006710541.1:p.Ile346= | |
| XM_011541070.2:c.1038C>A | XP_011539372.1:p.Ile346= | |
| XR_001737057.2:n.1541C>A | ||
| XR_001737058.2:n.2326C>A | ||
| NM_015139.3:c.957C>A MANE Select | NP_055954.1:p.Ile319= |