Linked Data
ClinVar Variation Id:
2684208
ClinVar RCV Id:
RCV003482704
dbSNP Id:
rs2096278714
gnomAD v4:
7-44149991-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149991C>T , CM000669.2:g.44149991C>T | GRCh38 |
| NC_000007.13:g.44189590C>T , CM000669.1:g.44189590C>T | GRCh37 |
| NC_000007.12:g.44156115C>T | NCBI36 |
| NG_008847.1:g.44433G>A | |
| NG_008847.2:g.53180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*555G>A | ENSP00000379142.4:n.*555G>A | |
| ENST00000616242.5:c.557G>A | ENSP00000482149.2:p.Arg186Gln | |
| ENST00000682635.1:n.1043G>A | ||
| ENST00000345378.7:c.560G>A | ENSP00000223366.2:p.Arg187Gln | |
| ENST00000403799.8:c.557G>A MANE Select | ENSP00000384247.3:p.Arg186Gln | |
| ENST00000671824.1:c.557G>A | ENSP00000500264.1:p.Arg186Gln | |
| ENST00000673284.1:c.557G>A | ENSP00000499852.1:p.Arg186Gln | |
| ENST00000345378.6:c.560G>A | ENSP00000223366.2:p.Arg187Gln | |
| ENST00000395796.7:c.554G>A | ENSP00000379142.3:p.Arg185Gln | |
| ENST00000403799.7:c.557G>A | ENSP00000384247.3:p.Arg186Gln | |
| ENST00000437084.1:c.506G>A | ENSP00000402840.1:p.Arg169Gln | |
| ENST00000616242.4:c.554G>A | ENSP00000482149.1:p.Arg185Gln | |
| NM_000162.3:c.557G>A | NP_000153.1:p.Arg186Gln | |
| NM_033507.1:c.560G>A | NP_277042.1:p.Arg187Gln | |
| NM_033508.1:c.554G>A | NP_277043.1:p.Arg185Gln | |
| NM_000162.4:c.557G>A | NP_000153.1:p.Arg186Gln | |
| NM_001354800.1:c.557G>A | NP_001341729.1:p.Arg186Gln | |
| NM_033507.2:c.560G>A | NP_277042.1:p.Arg187Gln | |
| NM_033508.2:c.554G>A | NP_277043.1:p.Arg185Gln | |
| NM_000162.5:c.557G>A MANE Select | NP_000153.1:p.Arg186Gln | |
| NM_033507.3:c.560G>A | NP_277042.1:p.Arg187Gln | |
| NM_033508.3:c.554G>A | NP_277043.1:p.Arg185Gln |