Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100277493G>T , CM000676.2:g.100277493G>T | GRCh38 |
| NC_000014.8:g.100743830G>T , CM000676.1:g.100743830G>T | GRCh37 |
| NC_000014.7:g.99813583G>T | NCBI36 |
| NG_046908.1:g.43729G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1138G>T MANE Select | NP_003394.1:p.Asp380Tyr |
| ENST00000262238.10:c.1138G>T MANE Select | ENSP00000262238.4:p.Asp380Tyr |
| NM_003403.4:c.1138G>T | NP_003394.1:p.Asp380Tyr |
| ENST00000262238.8:c.1138G>T | ENSP00000262238.4:p.Asp380Tyr |
| ENST00000554579.1:n.526G>T | |
| ENST00000554804.1:c.465G>T | |
| ENST00000623799.1:n.1765G>T | |
| ENST00000651219.1:c.628G>T | ENSP00000498329.1:n.628G>T |
| ENST00000704024.1:n.1187G>T | |
| ENST00000704485.1:c.376G>T | ENSP00000515913.1:p.Asp126Tyr |