Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83880595G>C , CM000675.2:g.83880595G>C | GRCh38 |
| NC_000013.10:g.84454730G>C , CM000675.1:g.84454730G>C | GRCh37 |
| NC_000013.9:g.83352731G>C | NCBI36 |
| NG_016748.1:g.6799C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001281503.2:c.913C>G MANE Select | NP_001268432.1:p.Pro305Ala |
| ENST00000674365.1:c.913C>G MANE Select | ENSP00000501349.1:p.Pro305Ala |
| NM_001281503.1:c.913C>G | NP_001268432.1:p.Pro305Ala |
| NM_052910.2:c.913C>G | NP_443142.1:p.Pro305Ala |
| ENST00000377084.3:c.913C>G | ENSP00000366288.2:p.Pro305Ala |