Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37805009A>G , CM000685.2:g.37805009A>G | GRCh38 |
| NC_000023.10:g.37664262A>G , CM000685.1:g.37664262A>G | GRCh37 |
| NC_000023.9:g.37549206A>G | NCBI36 |
| NG_009065.1:g.29993A>G , LRG_53:g.29993A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*664A>G | ENSP00000512461.1:n.*664A>G | |
| ENST00000696171.1:c.1059A>G | ENSP00000512462.1:p.Ile353Met | |
| ENST00000378588.5:c.1155A>G MANE Select | ENSP00000367851.4:p.Ile385Met | |
| ENST00000378588.4:c.1155A>G | ENSP00000367851.4:p.Ile385Met | |
| ENST00000465127.1:c.171+379009A>G | ENSP00000417050.1:n.171+379009A>G | |
| NM_000397.3:c.1155A>G , LRG_53t1:c.1155A>G | NP_000388.2:p.Ile385Met | |
| XM_011543890.1:c.849A>G | XP_011542192.1:p.Ile283Met | |
| NM_000397.4:c.1155A>G MANE Select | NP_000388.2:p.Ile385Met |