Linked Data
gnomAD v4:
3-138946112-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946112C>A , CM000665.2:g.138946112C>A | GRCh38 |
| NC_000003.11:g.138664954C>A , CM000665.1:g.138664954C>A | GRCh37 |
| NC_000003.10:g.140147644C>A | NCBI36 |
| NG_012454.1:g.6029G>T | |
| NG_029796.1:g.3879C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.611G>T MANE Select | ENSP00000497217.1:p.Trp204Leu | |
| ENST00000330315.3:c.611G>T | ENSP00000333188.3:p.Trp204Leu | |
| NM_023067.3:c.611G>T | NP_075555.1:p.Trp204Leu | |
| NM_023067.4:c.611G>T MANE Select | NP_075555.1:p.Trp204Leu |