Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075626A>C , CM000679.2:g.8075626A>C | GRCh38 |
| NC_000017.10:g.7978944A>C , CM000679.1:g.7978944A>C | GRCh37 |
| NC_000017.9:g.7919669A>C | NCBI36 |
| NG_007099.1:g.17078T>G | |
| NG_007099.2:g.17091T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1623T>G MANE Select | ENSP00000497784.1:p.Phe541Leu | |
| ENST00000649809.1:c.687T>G | ENSP00000496845.1:p.Phe229Leu | |
| ENST00000319144.4:c.1623T>G | ENSP00000315167.4:p.Phe541Leu | |
| ENST00000577351.5:n.479+549T>G | ||
| NM_001139.2:c.1623T>G | NP_001130.1:p.Phe541Leu | |
| NM_001139.3:c.1623T>G MANE Select | NP_001130.1:p.Phe541Leu |