Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149884677C>A , CM000663.2:g.149884677C>A | GRCh38 |
| NC_000001.10:g.149856227C>A , CM000663.1:g.149856227C>A | GRCh37 |
| NC_000001.9:g.148122851C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369155.4:c.*1583G>T MANE Select | ENSP00000358151.2:n.*1583G>T | |
| ENST00000369155.3:c.*1583G>T | ENSP00000358151.2:n.*1583G>T | |
| ENST00000369160.3:c.377+1587G>T | ENSP00000375736.2:n.377+1587G>T | |
| NM_003528.2:c.*1583G>T | NP_003519.1:n.*1583G>T | |
| NM_003528.3:c.*1583G>T MANE Select | NP_003519.1:n.*1583G>T |