Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88807416C>G , CM000678.2:g.88807416C>G | GRCh38 |
| NC_000016.9:g.88873824C>G , CM000678.1:g.88873824C>G | GRCh37 |
| NC_000016.8:g.87401325C>G | NCBI36 |
| NG_028266.1:g.8639C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030928.4:c.1411C>G MANE Select | NP_112190.2:p.Pro471Ala |
| ENST00000301019.9:c.1411C>G MANE Select | ENSP00000301019.4:p.Pro471Ala |
| NM_030928.3:c.1411C>G | NP_112190.2:p.Pro471Ala |
| ENST00000301019.8:c.1411C>G | ENSP00000301019.4:p.Pro471Ala |