Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967001C>A , CM000670.2:g.19967001C>A | GRCh38 |
| NC_000008.10:g.19824512C>A , CM000670.1:g.19824512C>A | GRCh37 |
| NC_000008.9:g.19868792C>A | NCBI36 |
| NG_008855.1:g.32931C>A | |
| NG_008855.2:g.70285C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1691C>A MANE Select | ENSP00000497642.1:n.*1691C>A | |
| ENST00000650478.1:c.2059C>A | ENSP00000497560.1:n.2059C>A | |
| ENST00000311322.8:c.*1691C>A | ENSP00000309757.6:n.*1691C>A | |
| NM_000237.2:c.*1691C>A | NP_000228.1:n.*1691C>A | |
| NM_000237.3:c.*1691C>A MANE Select | NP_000228.1:n.*1691C>A |