Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56454517G>A , CM000674.2:g.56454517G>A | GRCh38 |
| NC_000012.11:g.56848301G>A , CM000674.1:g.56848301G>A | GRCh37 |
| NC_000012.10:g.55134568G>A | NCBI36 |
| NG_021397.1:g.5135C>T | |
| NG_021397.2:g.19650C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012064.4:c.97C>T MANE Select | NP_036196.1:p.Arg33Cys |
| ENST00000652304.1:c.97C>T MANE Select | ENSP00000498622.1:p.Arg33Cys |
| NM_012064.3:c.97C>T | NP_036196.1:p.Arg33Cys |
| ENST00000257979.4:c.97C>T | ENSP00000257979.4:p.Arg33Cys |
| ENST00000555551.1:n.317-762C>T | |
| ENST00000648304.1:c.183-762C>T | ENSP00000497190.1:n.183-762C>T |
| ENST00000648442.1:n.494-762C>T | |
| ENST00000650166.1:n.250-762C>T | |
| XM_011538354.1:c.76-762C>T | XP_011536656.1:n.76-762C>T |