Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949700G>T , CM000666.2:g.99949700G>T | GRCh38 |
| NC_000004.11:g.100870857G>T , CM000666.1:g.100870857G>T | GRCh37 |
| NC_000004.10:g.101089880G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.44C>A MANE Select | ENSP00000296417.5:p.Thr15Lys | |
| ENST00000651623.1:c.44C>A | ENSP00000498935.1:p.Thr15Lys | |
| ENST00000296417.5:c.44C>A | ENSP00000296417.5:p.Thr15Lys | |
| ENST00000511203.1:n.600C>A | ||
| ENST00000511319.5:n.569C>A | ||
| ENST00000511348.1:n.229C>A | ||
| ENST00000527366.1:n.128C>A | ||
| ENST00000529158.5:n.93C>A | ||
| NM_002106.3:c.44C>A | NP_002097.1:p.Thr15Lys | |
| NM_002106.4:c.44C>A MANE Select | NP_002097.1:p.Thr15Lys |