Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37548944T>G , CM000665.2:g.37548944T>G | GRCh38 |
| NC_000003.11:g.37590435T>G , CM000665.1:g.37590435T>G | GRCh37 |
| NC_000003.10:g.37565439T>G | NCBI36 |
| NG_016166.1:g.101623T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002207.3:c.1689+6359T>G MANE Select | NP_002198.2:n.1689+6359T>G |
| ENST00000264741.10:c.1689+6359T>G MANE Select | ENSP00000264741.5:n.1689+6359T>G |
| NM_002207.2:c.1689+6359T>G | NP_002198.2:n.1689+6359T>G |
| ENST00000264741.9:c.1689+6359T>G | ENSP00000264741.5:n.1689+6359T>G |
| ENST00000422441.5:c.1689+6359T>G | ENSP00000397258.1:n.1689+6359T>G |