Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154188030A>T , CM000685.2:g.154188030A>T | GRCh38 |
| NC_000023.10:g.153453519A>T , CM000685.1:g.153453519A>T | GRCh37 |
| NG_011606.1:g.10435A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.373A>T MANE Select | ENSP00000472316.1:p.Met125Leu | |
| ENST00000595290.5:c.373A>T | ENSP00000472316.1:p.Met125Leu | |
| ENST00000595330.1:n.383A>T | ||
| NM_000513.2:c.373A>T MANE Select | NP_000504.1:p.Met125Leu |