Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061811T>G , CM000665.2:g.129061811T>G | GRCh38 |
| NC_000003.11:g.128780654T>G , CM000665.1:g.128780654T>G | GRCh37 |
| NC_000003.10:g.130263344T>G | NCBI36 |
| NG_008715.1:g.6010T>G , LRG_477:g.6010T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000174.5:c.72T>G MANE Select | NP_000165.1:p.Cys24Trp |
| ENST00000307395.5:c.72T>G MANE Select | ENSP00000303942.4:p.Cys24Trp |
| NM_000174.4:c.72T>G , LRG_477t1:c.72T>G | NP_000165.1:p.Cys24Trp |
| ENST00000307395.4:c.72T>G | ENSP00000303942.4:p.Cys24Trp |
| XM_005247374.3:c.72T>G | XP_005247431.1:p.Cys24Trp |
| XM_011512701.1:c.72T>G | XP_011511003.1:p.Cys24Trp |
| XM_011512702.1:c.72T>G | XP_011511004.1:p.Cys24Trp |