Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475267T>G , CM000685.2:g.134475267T>G | GRCh38 |
| NC_000023.10:g.133609297T>G , CM000685.1:g.133609297T>G | GRCh37 |
| NC_000023.9:g.133436963T>G | NCBI36 |
| NG_012329.1:g.20123T>G | |
| NG_012329.2:g.20123T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.221T>G MANE Select | NP_000185.1:p.Phe74Cys |
| ENST00000298556.8:c.221T>G MANE Select | ENSP00000298556.7:p.Phe74Cys |
| NM_000194.2:c.221T>G | NP_000185.1:p.Phe74Cys |
| ENST00000298556.7:c.221T>G | ENSP00000298556.7:p.Phe74Cys |
| ENST00000462974.5:n.379T>G | |
| ENST00000475720.1:n.179T>G | |
| XM_011531328.1:c.239T>G | XP_011529630.1:p.Phe80Cys |