Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80656489C>T , CM000667.2:g.80656489C>T | GRCh38 |
| NC_000005.9:g.79952308C>T , CM000667.1:g.79952308C>T | GRCh37 |
| NC_000005.8:g.79988064C>T | NCBI36 |
| NG_016607.1:g.7015C>T | |
| NG_023304.1:g.3493G>A | |
| NG_016607.2:g.7015C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.316C>T MANE Select | NP_002430.3:p.Gln106Ter |
| ENST00000265081.7:c.316C>T MANE Select | ENSP00000265081.6:p.Gln106Ter |
| NM_002439.4:c.316C>T | NP_002430.3:p.Gln106Ter |
| ENST00000265081.6:c.316C>T | ENSP00000265081.6:p.Gln106Ter |
| ENST00000512531.1:n.507C>T | |
| ENST00000658259.1:c.148C>T | ENSP00000499617.1:p.Gln50Ter |
| ENST00000667069.1:c.316C>T | ENSP00000499502.1:p.Gln106Ter |
| ENST00000670357.1:c.316C>T | ENSP00000499791.1:p.Gln106Ter |