Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269099C>A , CM000680.2:g.59269099C>A | GRCh38 |
| NC_000018.9:g.56936331C>A , CM000680.1:g.56936331C>A | GRCh37 |
| NC_000018.8:g.55087311C>A | NCBI36 |
| NG_013031.1:g.9295G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.946G>T MANE Select | ENSP00000334813.3:p.Asp316Tyr | |
| ENST00000256852.7:c.*377G>T | ENSP00000256852.7:n.*377G>T | |
| ENST00000334889.3:c.946G>T | ENSP00000334813.3:p.Asp316Tyr | |
| NM_013435.2:c.946G>T | NP_038463.2:p.Asp316Tyr | |
| NM_013435.3:c.946G>T MANE Select | NP_038463.2:p.Asp316Tyr |