Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66012946C>T , CM000673.2:g.66012946C>T | GRCh38 |
| NC_000011.9:g.65780417C>T , CM000673.1:g.65780417C>T | GRCh37 |
| NC_000011.8:g.65536993C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001323.4:c.361C>T MANE Select | NP_001314.1:p.Gln121Ter |
| ENST00000312134.3:c.361C>T MANE Select | ENSP00000311313.2:p.Gln121Ter |
| NM_001323.3:c.361C>T | NP_001314.1:p.Gln121Ter |
| ENST00000312134.2:c.361C>T | ENSP00000311313.2:p.Gln121Ter |