Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38976786T>G , CM000675.2:g.38976786T>G | GRCh38 |
| NC_000013.10:g.39550923T>G , CM000675.1:g.39550923T>G | GRCh37 |
| NC_000013.9:g.38448923T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145286.3:c.64A>C MANE Select | NP_660329.1:p.Lys22Gln |
| ENST00000379631.9:c.64A>C MANE Select | ENSP00000368952.4:p.Lys22Gln |
| NM_001144033.1:c.37A>C | NP_001137505.1:p.Lys13Gln |
| NM_001144033.2:c.37A>C | NP_001137505.1:p.Lys13Gln |
| NM_145286.2:c.64A>C | NP_660329.1:p.Lys22Gln |
| ENST00000379631.8:c.64A>C | ENSP00000368952.4:p.Lys22Gln |
| ENST00000423210.1:c.37A>C | ENSP00000401989.1:p.Lys13Gln |
| XM_011534946.1:c.64A>C | XP_011533248.1:p.Lys22Gln |