Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717922C>A , CM000671.2:g.2717922C>A | GRCh38 |
| NC_000009.11:g.2717922C>A , CM000671.1:g.2717922C>A | GRCh37 |
| NC_000009.10:g.2707922C>A | NCBI36 |
| NG_012181.1:g.5397C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.183C>A MANE Select | NP_598004.1:p.Gly61= |
| ENST00000382082.4:c.183C>A MANE Select | ENSP00000371514.3:p.Gly61= |
| NM_133497.3:c.183C>A | NP_598004.1:p.Gly61= |
| ENST00000382082.3:c.183C>A | ENSP00000371514.3:p.Gly61= |
| XR_929202.1:n.684C>A | |
| XR_929203.1:n.684C>A |