Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137243389C>T , CM000671.2:g.137243389C>T | GRCh38 |
| NC_000009.11:g.140137841C>T , CM000671.1:g.140137841C>T | GRCh37 |
| NC_000009.10:g.139257662C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340384.5:c.1171C>T MANE Select | ENSP00000341289.4:p.Arg391Cys | |
| ENST00000340384.4:c.1171C>T | ENSP00000341289.4:p.Arg391Cys | |
| ENST00000604929.1:n.1718C>T | ||
| NM_006088.5:c.1171C>T | NP_006079.1:p.Arg391Cys | |
| NM_006088.6:c.1171C>T MANE Select | NP_006079.1:p.Arg391Cys |