Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105148367C>A , CM000676.2:g.105148367C>A | GRCh38 |
| NC_000014.8:g.105614704C>A , CM000676.1:g.105614704C>A | GRCh37 |
| NC_000014.7:g.104685749C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002226.5:c.2093G>T MANE Select | NP_002217.3:p.Cys698Phe |
| ENST00000331782.8:c.2093G>T MANE Select | ENSP00000328169.3:p.Cys698Phe |
| NM_002226.4:c.2093G>T | NP_002217.3:p.Cys698Phe |
| NM_145159.2:c.1979G>T | NP_660142.1:p.Cys660Phe |
| NM_145159.3:c.1979G>T | NP_660142.1:p.Cys660Phe |
| ENST00000331782.7:c.2093G>T | ENSP00000328169.3:p.Cys698Phe |
| ENST00000347004.2:c.1979G>T | ENSP00000328566.2:p.Cys660Phe |
| ENST00000553244.1:n.28G>T | |
| XM_011536736.1:c.2059G>T | XP_011535038.1:p.Val687Leu |
| XR_001750303.2:n.2120G>T |