gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128345497C>T , CM000671.2:g.128345497C>T | GRCh38 |
| NC_000009.11:g.131107776C>T , CM000671.1:g.131107776C>T | GRCh37 |
| NC_000009.10:g.130147597C>T | NCBI36 |
| NG_017057.1:g.9938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300456.5:c.504C>T MANE Select | ENSP00000300456.3:p.Cys168= | |
| ENST00000300456.4:c.504C>T | ENSP00000300456.3:p.Cys168= | |
| ENST00000372870.5:c.231+2216C>T | ENSP00000361961.1:n.231+2216C>T | |
| NM_005094.3:c.504C>T | NP_005085.2:p.Cys168= | |
| XM_017014222.1:c.504C>T | XP_016869711.1:p.Cys168= | |
| XM_024447391.1:c.504C>T | XP_024303159.1:p.Cys168= | |
| NM_005094.4:c.504C>T MANE Select | NP_005085.2:p.Cys168= |