Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167069123A>G , CM000663.2:g.167069123A>G | GRCh38 |
| NC_000001.10:g.167038360A>G , CM000663.1:g.167038360A>G | GRCh37 |
| NC_000001.9:g.165304984A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367868.4:c.214T>C MANE Select | ENSP00000356842.3:p.Trp72Arg | |
| ENST00000367868.3:c.214T>C | ENSP00000356842.3:p.Trp72Arg | |
| ENST00000527955.5:n.305T>C | ||
| ENST00000534512.1:c.*35T>C | ENSP00000431195.1:n.*35T>C | |
| ENST00000632571.1:c.-111T>C | ENSP00000488407.1:n.-111T>C | |
| NM_005814.2:c.214T>C | NP_005805.1:p.Trp72Arg | |
| XM_017000005.1:c.-111T>C | XP_016855494.1:n.-111T>C | |
| NM_005814.3:c.214T>C MANE Select | NP_005805.1:p.Trp72Arg |