Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221319G>T , CM000684.2:g.50221319G>T | GRCh38 |
| NC_000022.10:g.50659748G>T , CM000684.1:g.50659748G>T | GRCh37 |
| NC_000022.9:g.49001875G>T | NCBI36 |
| NG_032160.1:g.28653C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3040C>A MANE Select | ENSP00000248846.5:p.Leu1014Met | |
| ENST00000248846.9:c.3040C>A | ENSP00000248846.5:p.Leu1014Met | |
| ENST00000439308.6:c.3040C>A | ENSP00000397387.2:p.Leu1014Met | |
| ENST00000491449.5:n.1347C>A | ||
| ENST00000498611.5:n.3573C>A | ||
| NM_020461.3:c.3040C>A | NP_065194.2:p.Leu1014Met | |
| XR_938347.1:n.3605C>A | ||
| XR_938348.1:n.3049+709C>A | ||
| XR_001755343.2:n.3609C>A | ||
| XR_001755344.2:n.3609C>A | ||
| XR_002958720.1:n.3053+709C>A | ||
| XR_938347.2:n.3609C>A | ||
| NM_020461.4:c.3040C>A MANE Select | NP_065194.3:p.Leu1014Met |