Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.846246T>G , CM000681.2:g.846246T>G | GRCh38 |
| NC_000019.9:g.846246T>G , CM000681.1:g.846246T>G | GRCh37 |
| NC_000019.8:g.797246T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002777.4:c.469T>G MANE Select | NP_002768.3:p.Trp157Gly |
| ENST00000234347.10:c.469T>G MANE Select | ENSP00000234347.3:p.Trp157Gly |
| NM_002777.3:c.469T>G | NP_002768.3:p.Trp157Gly |
| ENST00000234347.9:c.469T>G | ENSP00000234347.3:p.Trp157Gly |
| ENST00000544537.2:c.346T>G | ENSP00000475174.1:p.Trp116Gly |
| XM_011528136.1:c.469T>G | XP_011526438.1:p.Trp157Gly |