Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949725C>T , CM000666.2:g.99949725C>T | GRCh38 |
| NC_000004.11:g.100870882C>T , CM000666.1:g.100870882C>T | GRCh37 |
| NC_000004.10:g.101089905C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.19G>A MANE Select | ENSP00000296417.5:p.Gly7Arg | |
| ENST00000651623.1:c.19G>A | ENSP00000498935.1:p.Gly7Arg | |
| ENST00000296417.5:c.19G>A | ENSP00000296417.5:p.Gly7Arg | |
| ENST00000511203.1:n.575G>A | ||
| ENST00000511319.5:n.544G>A | ||
| ENST00000511348.1:n.204G>A | ||
| ENST00000527366.1:n.103G>A | ||
| ENST00000529158.5:n.68G>A | ||
| NM_002106.3:c.19G>A | NP_002097.1:p.Gly7Arg | |
| NM_002106.4:c.19G>A MANE Select | NP_002097.1:p.Gly7Arg |