Linked Data
ClinVar Variation Id:
18313
ClinVar RCV Id:
RCV000019977
RCV000036908
RCV000172514
RCV000245795
RCV000461895
RCV000769743
RCV003224104
dbSNP Id:
rs121434525
ExAC:
1:236849999 A / G
gnomAD v2:
1-236849999-A-G
gnomAD v3:
1-236686699-A-G
gnomAD v4:
1-236686699-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236686699A>G , CM000663.2:g.236686699A>G | GRCh38 |
| NC_000001.10:g.236849999A>G , CM000663.1:g.236849999A>G | GRCh37 |
| NC_000001.9:g.234916622A>G | NCBI36 |
| NG_009081.1:g.5230A>G | |
| NG_009081.2:g.27559A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542672.7:c.26A>G | ENSP00000443495.1:p.Gln9Arg | |
| ENST00000682015.1:c.26A>G | ENSP00000506961.1:p.Gln9Arg | |
| ENST00000682692.1:n.26A>G | ||
| ENST00000682966.1:n.25A>G | ||
| ENST00000683111.1:c.-32A>G | ENSP00000507913.1:n.-32A>G | |
| ENST00000684050.1:n.61A>G | ||
| ENST00000684286.1:n.94A>G | ||
| ENST00000684502.1:n.61A>G | ||
| ENST00000366578.6:c.26A>G MANE Select | ENSP00000355537.4:p.Gln9Arg | |
| ENST00000542672.6:c.26A>G | ENSP00000443495.1:p.Gln9Arg | |
| ENST00000651187.1:c.-91+9589A>G | ENSP00000498348.1:n.-91+9589A>G | |
| ENST00000651275.1:c.11A>G | ENSP00000498926.1:p.Gln4Arg | |
| ENST00000651786.1:c.26A>G | ENSP00000498364.1:p.Gln9Arg | |
| ENST00000652096.1:c.26A>G | ENSP00000498896.1:p.Gln9Arg | |
| ENST00000366578.5:c.26A>G | ENSP00000355537.4:p.Gln9Arg | |
| ENST00000492634.5:n.173A>G | ||
| ENST00000542672.5:c.26A>G | ENSP00000443495.1:p.Gln9Arg | |
| ENST00000546208.5:c.-796A>G | ENSP00000438384.2:n.-796A>G | |
| NM_001103.3:c.26A>G | NP_001094.1:p.Gln9Arg | |
| NM_001278343.1:c.26A>G | NP_001265272.1:p.Gln9Arg | |
| NM_001278344.1:c.-796A>G | NP_001265273.1:n.-796A>G | |
| NM_001278343.2:c.26A>G | NP_001265272.1:p.Gln9Arg | |
| NM_001103.4:c.26A>G MANE Select | NP_001094.1:p.Gln9Arg | |
| NM_001278344.2:c.-796A>G | NP_001265273.1:n.-796A>G |