Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425425G>A , CM000664.2:g.84425425G>A | GRCh38 |
| NC_000002.11:g.84652549G>A , CM000664.1:g.84652549G>A | GRCh37 |
| NC_000002.10:g.84506060G>A | NCBI36 |
| NG_016755.1:g.39038C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.1004C>T MANE Select | NP_003840.2:p.Thr335Met |
| ENST00000393868.7:c.1004C>T MANE Select | ENSP00000377446.2:p.Thr335Met |
| NM_003849.3:c.1004C>T | NP_003840.2:p.Thr335Met |
| ENST00000393868.6:c.1004C>T | ENSP00000377446.2:p.Thr335Met |
| ENST00000484365.1:n.1512C>T | |
| ENST00000487809.1:n.751C>T | |
| ENST00000491123.5:n.850C>T | |
| ENST00000651342.1:c.*444C>T | ENSP00000498471.1:n.*444C>T |