Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37805008T>G , CM000685.2:g.37805008T>G | GRCh38 |
| NC_000023.10:g.37664261T>G , CM000685.1:g.37664261T>G | GRCh37 |
| NC_000023.9:g.37549205T>G | NCBI36 |
| NG_009065.1:g.29992T>G , LRG_53:g.29992T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*663T>G | ENSP00000512461.1:n.*663T>G | |
| ENST00000696171.1:c.1058T>G | ENSP00000512462.1:p.Ile353Arg | |
| ENST00000378588.5:c.1154T>G MANE Select | ENSP00000367851.4:p.Ile385Arg | |
| ENST00000378588.4:c.1154T>G | ENSP00000367851.4:p.Ile385Arg | |
| ENST00000465127.1:c.171+379008T>G | ENSP00000417050.1:n.171+379008T>G | |
| NM_000397.3:c.1154T>G , LRG_53t1:c.1154T>G | NP_000388.2:p.Ile385Arg | |
| XM_011543890.1:c.848T>G | XP_011542192.1:p.Ile283Arg | |
| NM_000397.4:c.1154T>G MANE Select | NP_000388.2:p.Ile385Arg |