Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118583C>A , CM000682.2:g.44118583C>A | GRCh38 |
| NC_000020.10:g.42747223C>A , CM000682.1:g.42747223C>A | GRCh37 |
| NC_000020.9:g.42180637C>A | NCBI36 |
| NG_031867.1:g.73996G>T , LRG_394:g.73996G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1210G>T MANE Select | ENSP00000362071.3:p.Ala404Ser | |
| ENST00000372980.3:c.1210G>T | ENSP00000362071.3:p.Ala404Ser | |
| NM_020433.4:c.1210G>T , LRG_394t1:c.1210G>T | NP_065166.2:p.Ala404Ser | |
| XM_006723832.2:c.1210G>T | XP_006723895.1:p.Ala404Ser | |
| NM_020433.5:c.1210G>T MANE Select | NP_065166.2:p.Ala404Ser |