Linked Data
ClinVar Variation Id:
452829
dbSNP Id:
rs371043332
ExAC:
6:116757799 G / A
gnomAD v2:
6-116757799-G-A
gnomAD v3:
6-116436636-G-A
gnomAD v4:
6-116436636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116436636G>A , CM000668.2:g.116436636G>A | GRCh38 |
| NC_000006.11:g.116757799G>A , CM000668.1:g.116757799G>A | GRCh37 |
| NC_000006.10:g.116864492G>A | NCBI36 |
| NG_033266.1:g.161517G>A | |
| NG_033266.3:g.187485G>A | |
| NG_033266.4:g.187466G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359564.3:c.*1033G>A | ENSP00000352567.3:n.*1033G>A | |
| ENST00000644252.3:c.2168G>A MANE Select | ENSP00000494147.2:p.Arg723Gln | |
| ENST00000644499.1:c.766+5443G>A | ENSP00000495266.1:n.766+5443G>A | |
| ENST00000646710.1:c.*1033G>A | ENSP00000495970.1:n.*1033G>A | |
| ENST00000331677.7:c.2168G>A | ENSP00000332151.2:p.Arg723Gln | |
| ENST00000359564.2:c.2168G>A | ENSP00000352567.2:p.Arg723Gln | |
| ENST00000452085.7:c.2168G>A | ENSP00000404049.2:p.Arg723Gln | |
| ENST00000606712.1:n.2072G>A | ||
| NM_001080976.1:c.2168G>A | NP_001074445.1:p.Arg723Gln | |
| NM_013352.2:c.2168G>A | NP_037484.1:p.Arg723Gln | |
| XM_011535785.1:c.1133G>A | XP_011534087.1:p.Arg378Gln | |
| NM_001080976.2:c.2168G>A | NP_001074445.1:p.Arg723Gln | |
| NM_001322937.1:c.2168G>A | NP_001309866.1:p.Arg723Gln | |
| NM_001322938.1:c.2168G>A | NP_001309867.1:p.Arg723Gln | |
| NM_001322939.1:c.2225G>A | NP_001309868.1:p.Arg742Gln | |
| NM_001322940.1:c.1607G>A | NP_001309869.1:p.Arg536Gln | |
| NM_001322941.1:c.1607G>A | NP_001309870.1:p.Arg536Gln | |
| NM_001322943.1:c.*1033G>A | NP_001309872.1:n.*1033G>A | |
| NM_001322944.1:c.*1033G>A | NP_001309873.1:n.*1033G>A | |
| NM_013352.3:c.2168G>A | NP_037484.1:p.Arg723Gln | |
| NR_136524.1:n.2207G>A | ||
| XM_017010795.1:c.2225G>A | XP_016866284.1:p.Arg742Gln | |
| XM_017010796.1:c.2168G>A | XP_016866285.1:p.Arg723Gln | |
| XM_017010797.1:c.*1033G>A | XP_016866286.1:n.*1033G>A | |
| NM_001080976.3:c.2168G>A | NP_001074445.1:p.Arg723Gln | |
| NM_001322937.2:c.2168G>A | NP_001309866.1:p.Arg723Gln | |
| NM_001322938.2:c.2168G>A | NP_001309867.1:p.Arg723Gln | |
| NM_001322939.2:c.2225G>A | NP_001309868.1:p.Arg742Gln | |
| NM_001322940.2:c.1607G>A | NP_001309869.1:p.Arg536Gln | |
| NM_001322941.2:c.1607G>A | NP_001309870.1:p.Arg536Gln | |
| NM_001322943.2:c.*1033G>A | NP_001309872.1:n.*1033G>A | |
| NM_001322944.2:c.*1033G>A | NP_001309873.1:n.*1033G>A | |
| NM_001374520.1:c.1169G>A | NP_001361449.1:p.Arg390Gln | |
| NM_001374521.1:c.1133G>A | NP_001361450.1:p.Arg378Gln | |
| NM_013352.4:c.2168G>A MANE Select | NP_037484.1:p.Arg723Gln | |
| NR_136524.2:n.2184G>A |