Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199945C>T , CM000669.2:g.27199945C>T | GRCh38 |
| NC_000007.13:g.27239564C>T , CM000669.1:g.27239564C>T | GRCh37 |
| NC_000007.12:g.27206089C>T | NCBI36 |
| NG_008181.1:g.5162G>A | |
| NG_008181.2:g.5162G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000522.5:c.133G>A MANE Select | NP_000513.2:p.Ala45Thr |
| ENST00000649031.1:c.133G>A MANE Select | ENSP00000497112.1:p.Ala45Thr |
| NM_000522.4:c.133G>A | NP_000513.2:p.Ala45Thr |
| ENST00000222753.5:c.133G>A | ENSP00000222753.4:p.Ala45Thr |
| XM_011515344.1:c.133G>A | XP_011513646.1:p.Ala45Thr |