Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80768993C>G , CM000667.2:g.80768993C>G | GRCh38 |
| NC_000005.9:g.80064812C>G , CM000667.1:g.80064812C>G | GRCh37 |
| NC_000005.8:g.80100568C>G | NCBI36 |
| NG_016607.1:g.119519C>G | |
| NG_016607.2:g.119519C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.2243C>G MANE Select | NP_002430.3:p.Ser748Ter |
| ENST00000265081.7:c.2243C>G MANE Select | ENSP00000265081.6:p.Ser748Ter |
| NM_002439.4:c.2243C>G | NP_002430.3:p.Ser748Ter |
| ENST00000265081.6:c.2243C>G | ENSP00000265081.6:p.Ser748Ter |
| ENST00000658259.1:c.2075C>G | ENSP00000499617.1:p.Ser692Ter |
| ENST00000667069.1:c.2048C>G | ENSP00000499502.1:p.Ser683Ter |
| ENST00000670357.1:c.2243C>G | ENSP00000499791.1:p.Ser748Ter |