Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103543318C>G , CM000663.2:g.103543318C>G | GRCh38 |
| NC_000001.10:g.104085940C>G , CM000663.1:g.104085940C>G | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017619.4:c.916C>G MANE Select | NP_060089.1:p.Pro306Ala |
| ENST00000423855.7:c.916C>G MANE Select | ENSP00000391432.1:p.Pro306Ala |
| NM_017619.3:c.916C>G | NP_060089.1:p.Pro306Ala |
| ENST00000423855.6:c.916C>G | ENSP00000391432.1:p.Pro306Ala |
| ENST00000524631.5:c.913C>G | ENSP00000437278.1:p.Pro305Ala |
| ENST00000524641.1:c.138C>G | |
| ENST00000533099.5:c.916C>G | ENSP00000432886.1:p.Pro306Ala |
| ENST00000533834.1:n.243C>G |