Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149884662G>C , CM000663.2:g.149884662G>C | GRCh38 |
| NC_000001.10:g.149856212G>C , CM000663.1:g.149856212G>C | GRCh37 |
| NC_000001.9:g.148122836G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369155.4:c.*1598C>G MANE Select | ENSP00000358151.2:n.*1598C>G | |
| ENST00000369155.3:c.*1598C>G | ENSP00000358151.2:n.*1598C>G | |
| ENST00000369160.3:c.377+1602C>G | ENSP00000375736.2:n.377+1602C>G | |
| NM_003528.2:c.*1598C>G | NP_003519.1:n.*1598C>G | |
| NM_003528.3:c.*1598C>G MANE Select | NP_003519.1:n.*1598C>G |