Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859719T>C , CM000668.2:g.31859719T>C | GRCh38 |
| NC_000006.11:g.31827496T>C , CM000668.1:g.31827496T>C | GRCh37 |
| NC_000006.10:g.31935475T>C | NCBI36 |
| NG_008201.1:g.8214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1248A>G MANE Select | ENSP00000364782.4:p.Ter416Trp | |
| ENST00000677054.1:n.2587A>G | ||
| ENST00000677512.1:n.1525A>G | ||
| ENST00000678869.1:n.1836A>G | ||
| ENST00000375631.4:c.1248A>G | ENSP00000364782.4:p.Ter416Trp | |
| ENST00000480384.1:n.1547A>G | ||
| ENST00000491768.5:c.*358A>G | ENSP00000433127.1:n.*358A>G | |
| ENST00000495807.1:n.2556A>G | ||
| NM_000434.3:c.1248A>G | NP_000425.1:p.Ter416Trp | |
| NM_000434.4:c.1248A>G MANE Select | NP_000425.1:p.Ter416Trp |