Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886549C>G , CM000663.2:g.159886549C>G | GRCh38 |
| NC_000001.10:g.159856339C>G , CM000663.1:g.159856339C>G | GRCh37 |
| NC_000001.9:g.158122963C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.729G>C MANE Select | ENSP00000357079.4:p.Gln243His | |
| ENST00000368099.8:c.729G>C | ENSP00000357079.4:p.Gln243His | |
| ENST00000426543.6:c.474G>C | ENSP00000403044.2:p.Gln158His | |
| ENST00000476696.5:c.729G>C | ENSP00000483972.1:p.Gln243His | |
| NM_012337.2:c.729G>C | NP_036469.2:p.Gln243His | |
| NM_012337.3:c.729G>C MANE Select | NP_036469.2:p.Gln243His |