Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860045A>C , CM000668.2:g.31860045A>C | GRCh38 |
| NC_000006.11:g.31827822A>C , CM000668.1:g.31827822A>C | GRCh37 |
| NC_000006.10:g.31935801A>C | NCBI36 |
| NG_008201.1:g.7888T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1018T>G MANE Select | ENSP00000364782.4:p.Phe340Val | |
| ENST00000677054.1:n.2261T>G | ||
| ENST00000677512.1:n.1298+2T>G | ||
| ENST00000678869.1:n.1606T>G | ||
| ENST00000375631.4:c.1018T>G | ENSP00000364782.4:p.Phe340Val | |
| ENST00000480384.1:n.1221T>G | ||
| ENST00000491768.5:c.*128T>G | ENSP00000433127.1:n.*128T>G | |
| ENST00000495807.1:n.2326T>G | ||
| NM_000434.3:c.1018T>G | NP_000425.1:p.Phe340Val | |
| NM_000434.4:c.1018T>G MANE Select | NP_000425.1:p.Phe340Val |