ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956029C>G , CM000670.2:g.24956029C>G | GRCh38 |
| NC_000008.10:g.24813543C>G , CM000670.1:g.24813543C>G | GRCh37 |
| NC_000008.9:g.24869460C>G | NCBI36 |
| NG_008492.1:g.5589G>C , LRG_259:g.5589G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.487G>C MANE Select | ENSP00000482169.2:p.Glu163Gln | |
| ENST00000610854.1:c.487G>C | ENSP00000482169.1:p.Glu163Gln | |
| ENST00000615973.1:n.693G>C | ||
| ENST00000619417.1:c.487G>C | ENSP00000483690.1:p.Glu163Gln | |
| NM_006158.4:c.487G>C , LRG_259t1:c.487G>C | NP_006149.2:p.Glu163Gln | |
| NM_006158.5:c.487G>C MANE Select | NP_006149.2:p.Glu163Gln |