Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949727G>A , CM000666.2:g.99949727G>A | GRCh38 |
| NC_000004.11:g.100870884G>A , CM000666.1:g.100870884G>A | GRCh37 |
| NC_000004.10:g.101089907G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.17C>T MANE Select | ENSP00000296417.5:p.Ala6Val | |
| ENST00000651623.1:c.17C>T | ENSP00000498935.1:p.Ala6Val | |
| ENST00000296417.5:c.17C>T | ENSP00000296417.5:p.Ala6Val | |
| ENST00000511203.1:n.573C>T | ||
| ENST00000511319.5:n.542C>T | ||
| ENST00000511348.1:n.202C>T | ||
| ENST00000527366.1:n.101C>T | ||
| ENST00000529158.5:n.66C>T | ||
| NM_002106.3:c.17C>T | NP_002097.1:p.Ala6Val | |
| NM_002106.4:c.17C>T MANE Select | NP_002097.1:p.Ala6Val |