Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46411766C>G , CM000681.2:g.46411766C>G | GRCh38 |
| NC_000019.9:g.46915023C>G , CM000681.1:g.46915023C>G | GRCh37 |
| NC_000019.8:g.51606863C>G | NCBI36 |
| NG_031956.1:g.6897G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032040.5:c.1045G>C MANE Select | NP_114429.2:p.Ala349Pro |
| ENST00000307522.5:c.1045G>C MANE Select | ENSP00000303158.3:p.Ala349Pro |
| NM_032040.4:c.1045G>C | NP_114429.2:p.Ala349Pro |
| ENST00000307522.3:c.1045G>C | ENSP00000303158.3:p.Ala349Pro |
| ENST00000697726.1:c.1255G>C | ENSP00000513420.1:p.Ala419Pro |