Linked Data
ClinVar Variation Id:
1392291
ClinVar RCV Id:
RCV001911221
dbSNP Id:
rs201375409
ExAC:
8:28574136 G / A
gnomAD v2:
8-28574136-G-A
gnomAD v3:
8-28716619-G-A
gnomAD v4:
8-28716619-G-A
COSMIC:
COSM5874527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28716619G>A , CM000670.2:g.28716619G>A | GRCh38 |
| NC_000008.10:g.28574136G>A , CM000670.1:g.28574136G>A | GRCh37 |
| NC_000008.9:g.28630055G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696177.1:c.560G>A | ENSP00000512467.1:p.Arg187His | |
| ENST00000696178.1:c.560G>A | ENSP00000512468.1:p.Arg187His | |
| ENST00000696179.1:c.560G>A | ENSP00000512469.1:p.Arg187His | |
| ENST00000696180.1:c.560G>A | ENSP00000512470.1:p.Arg187His | |
| ENST00000696181.1:c.560G>A | ENSP00000512471.1:p.Arg187His | |
| ENST00000696182.1:c.-114-14604G>A | ENSP00000512472.1:n.-114-14604G>A | |
| ENST00000696184.1:c.560G>A | ENSP00000512473.1:p.Arg187His | |
| ENST00000696185.1:n.1193G>A | ||
| ENST00000696186.1:c.560G>A | ENSP00000512474.1:p.Arg187His | |
| ENST00000220562.9:c.560G>A MANE Select | ENSP00000220562.4:p.Arg187His | |
| ENST00000220562.8:c.560G>A | ENSP00000220562.4:p.Arg187His | |
| ENST00000519886.5:n.631+553G>A | ||
| ENST00000521532.5:c.42+6116G>A | ENSP00000431013.1:n.42+6116G>A | |
| ENST00000523149.5:c.28-620G>A | ENSP00000428691.1:n.28-620G>A | |
| NM_001440.3:c.560G>A | NP_001431.1:p.Arg187His | |
| NR_073468.1:n.188-14604G>A | ||
| NR_073469.1:n.763+553G>A | ||
| XM_011544440.1:c.560G>A | XP_011542742.1:p.Arg187His | |
| XM_011544440.3:c.560G>A | XP_011542742.1:p.Arg187His | |
| XM_024447094.1:c.560G>A | XP_024302862.1:p.Arg187His | |
| XM_024447095.1:c.560G>A | XP_024302863.1:p.Arg187His | |
| XM_024447096.1:c.560G>A | XP_024302864.1:p.Arg187His | |
| NM_001440.4:c.560G>A MANE Select | NP_001431.1:p.Arg187His | |
| NR_073468.2:n.160-14604G>A | ||
| NR_073469.2:n.735+553G>A |