Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23118735C>T , CM000676.2:g.23118735C>T | GRCh38 |
| NC_000014.8:g.23587944C>T , CM000676.1:g.23587944C>T | GRCh37 |
| NC_000014.7:g.22657784C>T | NCBI36 |
| NG_009617.1:g.5531G>A , LRG_45:g.5531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.326G>A | ||
| ENST00000696122.1:n.103G>A | ||
| ENST00000206513.6:c.357G>A MANE Select | ENSP00000206513.5:p.Ala119= | |
| ENST00000206513.5:c.357G>A | ENSP00000206513.5:p.Ala119= | |
| NM_001805.3:c.357G>A | NP_001796.2:p.Ala119= | |
| XM_011536359.1:c.312G>A | XP_011534661.1:p.Ala104= | |
| NM_001805.4:c.357G>A MANE Select | NP_001796.2:p.Ala119= |