Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129814760A>C , CM000685.2:g.129814760A>C | GRCh38 |
| NC_000023.10:g.128948736A>C , CM000685.1:g.128948736A>C | GRCh37 |
| NC_000023.9:g.128776417A>C | NCBI36 |
| NG_021387.1:g.34175T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016032.4:c.523T>G MANE Select | NP_057116.2:p.Cys175Gly |
| ENST00000357166.11:c.523T>G MANE Select | ENSP00000349689.6:p.Cys175Gly |
| NM_001008222.2:c.523T>G | NP_001008223.1:p.Cys175Gly |
| NM_001008222.3:c.523T>G | NP_001008223.1:p.Cys175Gly |
| NM_016032.3:c.523T>G | NP_057116.2:p.Cys175Gly |
| ENST00000357166.10:c.523T>G | ENSP00000349689.6:p.Cys175Gly |
| ENST00000371064.7:c.523T>G | ENSP00000360103.3:p.Cys175Gly |
| ENST00000433917.5:c.367-1035T>G | |
| XM_011531347.1:c.523T>G | XP_011529649.1:p.Cys175Gly |
| XR_001755694.2:n.917T>G |