Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028710T= , CM000663.2:g.17028710T= | GRCh38 |
| NC_000001.10:g.17355205T= , CM000663.1:g.17355205T= | GRCh37 |
| NC_000001.9:g.17227792T= | NCBI36 |
| NG_012340.1:g.30461A= , LRG_316:g.30461A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.142A= | ENSP00000481376.2:p.Ile48= | |
| ENST00000491274.6:c.271A= | ENSP00000480482.2:p.Ile91= | |
| ENST00000375499.8:c.313A= MANE Select | ENSP00000364649.3:p.Ile105= | |
| ENST00000375499.7:c.313A= | ENSP00000364649.3:p.Ile105= | |
| ENST00000463045.2:c.142A= | ENSP00000481376.1:p.Ile48= | |
| ENST00000475506.1:n.230A= | ||
| ENST00000485515.5:n.301A= | ||
| ENST00000491274.5:c.271A= | ENSP00000480482.1:p.Ile91= | |
| NM_003000.2:c.313A= , LRG_316t1:c.313A= | NP_002991.2:p.Ile105= | |
| NM_003000.3:c.313A= MANE Select | NP_002991.2:p.Ile105= |