Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23117747C>A , CM000676.2:g.23117747C>A | GRCh38 |
| NC_000014.8:g.23586956C>A , CM000676.1:g.23586956C>A | GRCh37 |
| NC_000014.7:g.22656796C>A | NCBI36 |
| NG_009617.1:g.6519G>T , LRG_45:g.6519G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.555G>T | ||
| ENST00000696122.1:n.332G>T | ||
| ENST00000206513.6:c.586G>T MANE Select | ENSP00000206513.5:p.Gly196Cys | |
| ENST00000206513.5:c.586G>T | ENSP00000206513.5:p.Gly196Cys | |
| NM_001805.3:c.586G>T | NP_001796.2:p.Gly196Cys | |
| XM_011536359.1:c.541G>T | XP_011534661.1:p.Gly181Cys | |
| NM_001805.4:c.586G>T MANE Select | NP_001796.2:p.Gly196Cys |