Linked Data
ClinVar Variation Id:
2554830
ClinVar RCV Id:
RCV004322871
dbSNP Id:
rs189412837
ExAC:
10:101639671 C / T
gnomAD v2:
10-101639671-C-T
gnomAD v3:
10-99879914-C-T
gnomAD v4:
10-99879914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99879914C>T , CM000672.2:g.99879914C>T | GRCh38 |
| NC_000010.10:g.101639671C>T , CM000672.1:g.101639671C>T | GRCh37 |
| NC_000010.9:g.101629661C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324109.9:c.4445G>A MANE Select | ENSP00000315659.4:p.Arg1482Gln | |
| ENST00000543621.6:c.2309G>A | ENSP00000443657.2:p.Arg770Gln | |
| ENST00000636706.1:c.3341G>A | ENSP00000489875.1:p.Arg1114Gln | |
| ENST00000324109.8:c.4445G>A | ENSP00000315659.4:p.Arg1482Gln | |
| ENST00000543621.5:c.2183G>A | ENSP00000443657.1:p.Arg728Gln | |
| NM_015221.2:c.4445G>A | NP_056036.1:p.Arg1482Gln | |
| XM_006717735.2:c.4316G>A | XP_006717798.1:p.Arg1439Gln | |
| XM_011539559.1:c.4445G>A | XP_011537861.1:p.Arg1482Gln | |
| XM_011539560.1:c.3341G>A | XP_011537862.1:p.Arg1114Gln | |
| NM_001318326.1:c.3341G>A | NP_001305255.1:p.Arg1114Gln | |
| NM_001318327.1:c.2309G>A | NP_001305256.1:p.Arg770Gln | |
| NM_015221.3:c.4445G>A | NP_056036.1:p.Arg1482Gln | |
| XM_006717735.3:c.4316G>A | XP_006717798.1:p.Arg1439Gln | |
| XM_011539559.2:c.4445G>A | XP_011537861.1:p.Arg1482Gln | |
| NM_015221.4:c.4445G>A MANE Select | NP_056036.1:p.Arg1482Gln | |
| NM_001318326.2:c.3341G>A | NP_001305255.1:p.Arg1114Gln |