Linked Data
ClinVar Variation Id:
76
ClinVar RCV Id:
RCV000000094
dbSNP Id:
rs121918066
ExAC:
1:45481061 G / A
gnomAD v2:
1-45481061-G-A
gnomAD v3:
1-45015389-G-A
gnomAD v4:
1-45015389-G-A
PubMed:
PMID:9792863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45015389G>A , CM000663.2:g.45015389G>A | GRCh38 |
| NC_000001.10:g.45481061G>A , CM000663.1:g.45481061G>A | GRCh37 |
| NC_000001.9:g.45253648G>A | NCBI36 |
| NG_007122.2:g.8232G>A | |
| NG_033058.1:g.967C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246337.9:c.995G>A MANE Select | ENSP00000246337.4:p.Arg332His | |
| ENST00000491773.6:c.752G>A | ENSP00000498551.1:p.Arg251His | |
| ENST00000636293.1:c.857G>A | ENSP00000490710.1:p.Arg286His | |
| ENST00000636836.1:c.*31G>A | ENSP00000490594.1:n.*31G>A | |
| ENST00000651476.1:c.890G>A | ENSP00000498668.1:p.Arg297His | |
| ENST00000652165.1:c.752G>A | ENSP00000498295.1:p.Arg251His | |
| ENST00000652287.1:c.932G>A | ENSP00000498413.1:p.Arg311His | |
| ENST00000652514.1:c.956G>A | ENSP00000498635.1:n.956G>A | |
| ENST00000246337.8:c.995G>A | ENSP00000246337.4:p.Arg332His | |
| ENST00000465678.1:n.740G>A | ||
| ENST00000466193.1:n.521G>A | ||
| ENST00000472254.1:n.748G>A | ||
| ENST00000494399.5:n.1662G>A | ||
| NM_000374.4:c.995G>A | NP_000365.3:p.Arg332His | |
| NR_036510.1:n.1178G>A | ||
| XM_005271169.1:c.779G>A | XP_005271226.1:p.Arg260His | |
| XM_005271170.1:c.779G>A | XP_005271227.1:p.Arg260His | |
| XM_011542080.1:c.932G>A | XP_011540382.1:p.Arg311His | |
| XM_011542081.1:c.827G>A | XP_011540383.1:p.Arg276His | |
| NM_000374.5:c.995G>A MANE Select | NP_000365.3:p.Arg332His | |
| NR_158184.1:n.1076G>A | ||
| NR_158185.1:n.1026G>A | ||
| NR_036510.2:n.1057G>A |