Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32584282G>T , CM000668.2:g.32584282G>T | GRCh38 |
| NC_000006.11:g.32552059G>T , CM000668.1:g.32552059G>T | GRCh37 |
| NC_000006.10:g.32660037G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002124.4:c.197C>A MANE Select | NP_002115.2:p.Ser66Tyr |
| ENST00000360004.6:c.197C>A MANE Select | ENSP00000353099.5:p.Ser66Tyr |
| NM_002124.3:c.197C>A | NP_002115.2:p.Ser66Tyr |
| ENST00000360004.5:c.197C>A | ENSP00000353099.5:p.Ser66Tyr |
| ENST00000611060.4:c.197C>A | ENSP00000480667.1:p.Ser66Tyr |
| ENST00000696610.1:c.*102C>A | ENSP00000512754.1:n.*102C>A |
| ENST00000696611.1:n.120C>A | |
| ENST00000696612.1:n.260C>A | |
| ENST00000696613.1:n.175C>A | |
| ENST00000696614.1:n.325C>A |