Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100276616C>T , CM000676.2:g.100276616C>T | GRCh38 |
| NC_000014.8:g.100742953C>T , CM000676.1:g.100742953C>T | GRCh37 |
| NC_000014.7:g.99812706C>T | NCBI36 |
| NG_046908.1:g.42852C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1030C>T MANE Select | NP_003394.1:p.Gln344Ter |
| ENST00000262238.10:c.1030C>T MANE Select | ENSP00000262238.4:p.Gln344Ter |
| NM_003403.4:c.1030C>T | NP_003394.1:p.Gln344Ter |
| ENST00000262238.8:c.1030C>T | ENSP00000262238.4:p.Gln344Ter |
| ENST00000554579.1:n.418C>T | |
| ENST00000554804.1:c.390-802C>T | |
| ENST00000623799.1:n.888C>T | |
| ENST00000651219.1:c.520C>T | ENSP00000498329.1:n.520C>T |
| ENST00000704024.1:n.1079C>T | |
| ENST00000704485.1:c.268C>T | ENSP00000515913.1:p.Gln90Ter |