Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9973784A>G , CM000681.2:g.9973784A>G | GRCh38 |
| NC_000019.9:g.10084460A>G , CM000681.1:g.10084460A>G | GRCh37 |
| NC_000019.8:g.9945460A>G | NCBI36 |
| NG_046943.1:g.41755T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264828.4:c.3584T>C MANE Select | ENSP00000264828.3:p.Val1195Ala | |
| ENST00000264828.3:c.3584T>C | ENSP00000264828.3:p.Val1195Ala | |
| NM_015719.3:c.3584T>C | NP_056534.2:p.Val1195Ala | |
| XM_011528042.1:c.3581T>C | XP_011526344.1:p.Val1194Ala | |
| XM_011528042.2:c.3581T>C | XP_011526344.1:p.Val1194Ala | |
| XM_017026849.2:c.1247T>C | XP_016882338.1:p.Val416Ala | |
| NM_015719.4:c.3584T>C MANE Select | NP_056534.2:p.Val1195Ala |