Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.256731T>G , CM000669.2:g.256731T>G | GRCh38 |
| NC_000007.13:g.296697T>G , CM000669.1:g.296697T>G | GRCh37 |
| NG_033970.1:g.66367T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1331T>G MANE Select | NP_064608.2:p.Val444Gly |
| ENST00000313766.6:c.1331T>G MANE Select | ENSP00000322323.5:p.Val444Gly |
| NM_020223.3:c.1331T>G | NP_064608.2:p.Val444Gly |
| ENST00000313766.5:c.1331T>G | ENSP00000322323.5:p.Val444Gly |
| ENST00000512382.1:n.537T>G | |
| ENST00000515795.1:n.988T>G | |
| XM_017012450.1:c.1592T>G | XP_016867939.1:p.Val531Gly |
| XM_017012451.1:c.1589T>G | XP_016867940.1:p.Val530Gly |
| XM_017012455.2:c.629T>G | XP_016867944.1:p.Val210Gly |
| XR_242097.3:n.1478T>G |