Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835512A>C , CM000670.2:g.117835512A>C | GRCh38 |
| NC_000008.10:g.118847751A>C , CM000670.1:g.118847751A>C | GRCh37 |
| NC_000008.9:g.118916932A>C | NCBI36 |
| NG_007455.2:g.281308T>G , LRG_493:g.281308T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.563T>G | ||
| ENST00000378204.7:c.1096T>G MANE Select | ENSP00000367446.3:p.Leu366Val | |
| ENST00000436216.2:c.464T>G | ||
| ENST00000378204.6:c.1096T>G | ENSP00000367446.2:p.Leu366Val | |
| ENST00000436216.1:c.464T>G | ||
| ENST00000437196.1:c.113T>G | ENSP00000407299.1:p.Val38Gly | |
| NM_000127.2:c.1096T>G , LRG_493t1:c.1096T>G | NP_000118.2:p.Leu366Val | |
| NM_000127.3:c.1096T>G MANE Select | NP_000118.2:p.Leu366Val |