Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105148367C>G , CM000676.2:g.105148367C>G | GRCh38 |
| NC_000014.8:g.105614704C>G , CM000676.1:g.105614704C>G | GRCh37 |
| NC_000014.7:g.104685749C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002226.5:c.2093G>C MANE Select | NP_002217.3:p.Cys698Ser |
| ENST00000331782.8:c.2093G>C MANE Select | ENSP00000328169.3:p.Cys698Ser |
| NM_002226.4:c.2093G>C | NP_002217.3:p.Cys698Ser |
| NM_145159.2:c.1979G>C | NP_660142.1:p.Cys660Ser |
| NM_145159.3:c.1979G>C | NP_660142.1:p.Cys660Ser |
| ENST00000331782.7:c.2093G>C | ENSP00000328169.3:p.Cys698Ser |
| ENST00000347004.2:c.1979G>C | ENSP00000328566.2:p.Cys660Ser |
| ENST00000553244.1:n.28G>C | |
| XM_011536736.1:c.2059G>C | XP_011535038.1:p.Val687Leu |
| XR_001750303.2:n.2120G>C |