Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648134T>G , CM000673.2:g.69648134T>G | GRCh38 |
| NC_000011.9:g.69462902T>G , CM000673.1:g.69462902T>G | GRCh37 |
| NC_000011.8:g.69172083T>G | NCBI36 |
| NG_007375.1:g.12030T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.715T>G MANE Select | ENSP00000227507.2:p.Cys239Gly | |
| ENST00000227507.2:c.715T>G | ENSP00000227507.2:p.Cys239Gly | |
| ENST00000536559.1:c.*135T>G | ENSP00000438482.1:n.*135T>G | |
| ENST00000542367.1:n.178T>G | ||
| ENST00000545484.1:n.421T>G | ||
| NM_053056.2:c.715T>G | NP_444284.1:p.Cys239Gly | |
| XM_006718653.2:c.739T>G | XP_006718716.1:p.Cys247Gly | |
| NM_053056.3:c.715T>G MANE Select | NP_444284.1:p.Cys239Gly |