Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49036261C>T , CM000681.2:g.49036261C>T | GRCh38 |
| NC_000019.9:g.49539518C>T , CM000681.1:g.49539518C>T | GRCh37 |
| NC_000019.8:g.54231330C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033377.2:c.52G>A MANE Select | NP_203695.2:p.Ala18Thr |
| ENST00000301407.8:c.52G>A MANE Select | ENSP00000301407.6:p.Ala18Thr |
| NM_001382421.1:c.16G>A | NP_001369350.1:p.Ala6Thr |
| NM_033377.1:c.52G>A | NP_203695.2:p.Ala18Thr |
| ENST00000301407.7:c.52G>A | ENSP00000301407.6:p.Ala18Thr |
| ENST00000591656.1:c.-28+265G>A | ENSP00000466140.1:n.-28+265G>A |
| ENST00000601167.1:c.16G>A | ENSP00000472896.2:p.Ala6Thr |
| ENST00000604577.1:c.9+442G>A | ENSP00000474022.1:n.9+442G>A |