Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49636915C>T , CM000681.2:g.49636915C>T | GRCh38 |
| NC_000019.9:g.50140172C>T , CM000681.1:g.50140172C>T | GRCh37 |
| NC_000019.8:g.54831984C>T | NCBI36 |
| NG_042222.1:g.8229G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006270.5:c.253G>A MANE Select | NP_006261.1:p.Ala85Thr |
| ENST00000246792.4:c.253G>A MANE Select | ENSP00000246792.2:p.Ala85Thr |
| NM_006270.3:c.253G>A | NP_006261.1:p.Ala85Thr |
| NM_006270.4:c.253G>A | NP_006261.1:p.Ala85Thr |
| ENST00000246792.3:c.253G>A | ENSP00000246792.2:p.Ala85Thr |
| ENST00000601532.1:n.393G>A |