Linked Data
ClinVar Variation Id:
101504
ClinVar RCV Id:
RCV000087741
dbSNP Id:
rs147579680
ExAC:
12:64017904 C / T
gnomAD v2:
12-64017904-C-T
gnomAD v3:
12-63624124-C-T
gnomAD v4:
12-63624124-C-T
COSMIC:
COSM3782757
PubMed:
PMID:22653751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63624124C>T , CM000674.2:g.63624124C>T | GRCh38 |
| NC_000012.11:g.64017904C>T , CM000674.1:g.64017904C>T | GRCh37 |
| NC_000012.10:g.62304171C>T | NCBI36 |
| NG_031909.1:g.49451G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324472.9:c.869G>A MANE Select | ENSP00000315988.4:p.Arg290His | |
| ENST00000306389.7:c.*344+2345G>A | ENSP00000445878.1:n.*344+2345G>A | |
| ENST00000324472.8:c.869G>A | ENSP00000315988.4:p.Arg290His | |
| NM_173812.4:c.869G>A | NP_776173.3:p.Arg290His | |
| XM_006719348.2:c.869G>A | XP_006719411.1:p.Arg290His | |
| XM_006719350.2:c.869G>A | XP_006719413.1:p.Arg290His | |
| XM_006719352.1:c.440G>A | XP_006719415.1:p.Arg147His | |
| XM_006719353.2:c.440G>A | XP_006719416.1:p.Arg147His | |
| XM_006719355.2:c.869G>A | XP_006719418.1:p.Arg290His | |
| XM_006719356.2:c.8+2345G>A | XP_006719419.1:n.8+2345G>A | |
| XM_011538215.1:c.356G>A | XP_011536517.1:p.Arg119His | |
| XM_011538216.1:c.869G>A | XP_011536518.1:p.Arg290His | |
| XM_011538217.1:c.869G>A | XP_011536519.1:p.Arg290His | |
| XR_429092.2:n.1085G>A | ||
| XR_944521.1:n.1085G>A | ||
| XM_006719352.2:c.440G>A | XP_006719415.1:p.Arg147His | |
| XM_011538215.2:c.356G>A | XP_011536517.1:p.Arg119His | |
| XM_017019192.2:c.804-2787G>A | XP_016874681.1:n.804-2787G>A | |
| XM_017019193.2:c.566G>A | XP_016874682.1:p.Arg189His | |
| XM_017019201.1:c.8+2345G>A | XP_016874690.1:n.8+2345G>A | |
| XM_017019203.2:c.8+2345G>A | XP_016874692.1:n.8+2345G>A | |
| XM_017019204.1:c.8+2345G>A | XP_016874693.1:n.8+2345G>A | |
| XM_024448944.1:c.869G>A | XP_024304712.1:p.Arg290His | |
| XM_024448945.1:c.869G>A | XP_024304713.1:p.Arg290His | |
| XM_024448946.1:c.440G>A | XP_024304714.1:p.Arg147His | |
| XM_024448947.1:c.440G>A | XP_024304715.1:p.Arg147His | |
| XM_024448948.1:c.869G>A | XP_024304716.1:p.Arg290His | |
| XM_024448949.1:c.869G>A | XP_024304717.1:p.Arg290His | |
| XM_024448950.1:c.869G>A | XP_024304718.1:p.Arg290His | |
| XM_024448951.1:c.869G>A | XP_024304719.1:p.Arg290His | |
| XM_024448952.1:c.869G>A | XP_024304720.1:p.Arg290His | |
| XM_024448953.1:c.869G>A | XP_024304721.1:p.Arg290His | |
| XM_024448954.1:c.869G>A | XP_024304722.1:p.Arg290His | |
| XM_024448955.1:c.869G>A | XP_024304723.1:p.Arg290His | |
| XM_024448956.1:c.440G>A | XP_024304724.1:p.Arg147His | |
| XM_024448957.1:c.869G>A | XP_024304725.1:p.Arg290His | |
| XR_001748666.2:n.1021G>A | ||
| XR_002957314.1:n.1021G>A | ||
| XR_002957315.1:n.1021G>A | ||
| XR_002957316.1:n.1021G>A | ||
| XR_002957317.1:n.1021G>A | ||
| XR_002957318.1:n.1021G>A | ||
| XR_002957319.1:n.1021G>A | ||
| NM_173812.5:c.869G>A MANE Select | NP_776173.3:p.Arg290His |