Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008237C>T , CM000666.2:g.88008237C>T | GRCh38 |
| NC_000004.11:g.88929389C>T , CM000666.1:g.88929389C>T | GRCh37 |
| NC_000004.10:g.89148413C>T | NCBI36 |
| NG_008604.1:g.5570C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.504C>T MANE Select | ENSP00000237596.2:p.Val168= | |
| ENST00000237596.6:c.504C>T | ENSP00000237596.2:p.Val168= | |
| ENST00000506727.1:n.6C>T | ||
| NM_000297.3:c.504C>T | NP_000288.1:p.Val168= | |
| XM_011532028.1:c.504C>T | XP_011530330.1:p.Val168= | |
| XR_244632.2:n.599C>T | ||
| NR_156488.1:n.591C>T | ||
| XM_011532028.2:c.504C>T | XP_011530330.1:p.Val168= | |
| NM_000297.4:c.504C>T MANE Select | NP_000288.1:p.Val168= | |
| NR_156488.2:n.603C>T |