Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31266694T>C , CM000664.2:g.31266694T>C | GRCh38 |
| NC_000002.11:g.31489560T>C , CM000664.1:g.31489560T>C | GRCh37 |
| NC_000002.10:g.31343064T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014600.3:c.1598T>C MANE Select | NP_055415.1:p.Val533Ala |
| ENST00000322054.10:c.1598T>C MANE Select | ENSP00000327116.5:p.Val533Ala |
| NM_014600.2:c.1598T>C | NP_055415.1:p.Val533Ala |
| ENST00000322054.9:c.1598T>C | ENSP00000327116.5:p.Val533Ala |
| ENST00000541626.2:c.1597T>C | ENSP00000440685.2:p.Leu533= |
| XM_011532806.1:c.959T>C | XP_011531108.1:p.Val320Ala |
| XM_011532806.2:c.959T>C | XP_011531108.1:p.Val320Ala |