Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80873127C>T , CM000667.2:g.80873127C>T | GRCh38 |
| NC_000005.9:g.80168946C>T , CM000667.1:g.80168946C>T | GRCh37 |
| NC_000005.8:g.80204702C>T | NCBI36 |
| NG_016607.1:g.223653C>T | |
| NG_016607.2:g.223653C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3142C>T MANE Select | NP_002430.3:p.Gln1048Ter |
| ENST00000265081.7:c.3142C>T MANE Select | ENSP00000265081.6:p.Gln1048Ter |
| NM_002439.4:c.3142C>T | NP_002430.3:p.Gln1048Ter |
| ENST00000265081.6:c.3142C>T | ENSP00000265081.6:p.Gln1048Ter |
| ENST00000658259.1:c.2974C>T | ENSP00000499617.1:p.Gln992Ter |
| ENST00000659302.1:c.550C>T | |
| ENST00000667069.1:c.2947C>T | ENSP00000499502.1:p.Gln983Ter |
| ENST00000670357.1:c.*466C>T | ENSP00000499791.1:n.*466C>T |