Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100277476T>G , CM000676.2:g.100277476T>G | GRCh38 |
| NC_000014.8:g.100743813T>G , CM000676.1:g.100743813T>G | GRCh37 |
| NC_000014.7:g.99813566T>G | NCBI36 |
| NG_046908.1:g.43712T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003403.5:c.1121T>G MANE Select | NP_003394.1:p.Val374Gly |
| ENST00000262238.10:c.1121T>G MANE Select | ENSP00000262238.4:p.Val374Gly |
| NM_003403.4:c.1121T>G | NP_003394.1:p.Val374Gly |
| ENST00000262238.8:c.1121T>G | ENSP00000262238.4:p.Val374Gly |
| ENST00000554579.1:n.509T>G | |
| ENST00000554804.1:c.448T>G | |
| ENST00000623799.1:n.1748T>G | |
| ENST00000651219.1:c.611T>G | ENSP00000498329.1:n.611T>G |
| ENST00000704024.1:n.1170T>G | |
| ENST00000704485.1:c.359T>G | ENSP00000515913.1:p.Val120Gly |