Linked Data
ClinVar Variation Id:
224073
ClinVar RCV Id:
RCV000209922
dbSNP Id:
rs869312132
PubMed:
PMID:26257134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100206621C>T , CM000663.2:g.100206621C>T | GRCh38 |
| NC_000001.10:g.100672177C>T , CM000663.1:g.100672177C>T | GRCh37 |
| NC_000001.9:g.100444765C>T | NCBI36 |
| NG_011852.2:g.48233G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.1159G>A | ENSP00000505544.1:p.Gly387Arg | |
| ENST00000681780.1:c.490G>A | ENSP00000505780.1:p.Gly164Arg | |
| ENST00000370132.8:c.1033G>A MANE Select | ENSP00000359151.3:p.Gly345Arg | |
| NM_001918.3:c.1033G>A | NP_001909.3:p.Gly345Arg | |
| XM_005270545.2:c.490G>A | XP_005270602.1:p.Gly164Arg | |
| XM_005270546.2:c.490G>A | XP_005270603.1:p.Gly164Arg | |
| XM_005270545.4:c.490G>A | XP_005270602.1:p.Gly164Arg | |
| XM_017000468.2:c.490G>A | XP_016855957.1:p.Gly164Arg | |
| XM_017000469.2:c.490G>A | XP_016855958.1:p.Gly164Arg | |
| NM_001918.4:c.1033G>A | NP_001909.3:p.Gly345Arg | |
| NM_001918.5:c.1033G>A MANE Select | NP_001909.4:p.Gly345Arg | |
| NM_001399969.1:c.490G>A | NP_001386898.1:p.Gly164Arg | |
| NM_001399972.1:c.490G>A | NP_001386901.1:p.Gly164Arg | |
| NR_174363.1:n.865G>A | ||
| NR_174364.1:n.1047G>A | ||
| NR_174365.1:n.830G>A | ||
| NR_174366.1:n.1132G>A |