Linked Data
ClinVar Variation Id:
7602
dbSNP Id:
rs104893751
ExAC:
3:9792107 G / A
gnomAD v2:
3-9792107-G-A
gnomAD v3:
3-9750423-G-A
gnomAD v4:
3-9750423-G-A
PubMed:
PMID:10987279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9750423G>A , CM000665.2:g.9750423G>A | GRCh38 |
| NC_000003.11:g.9792107G>A , CM000665.1:g.9792107G>A | GRCh37 |
| NC_000003.10:g.9767107G>A | NCBI36 |
| NG_012106.1:g.5480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302036.12:c.137G>A | ENSP00000306561.7:p.Arg46Gln | |
| ENST00000352937.6:c.137G>A | ENSP00000344899.6:p.Arg46Gln | |
| ENST00000707074.1:c.137G>A | ENSP00000516725.1:p.Arg46Gln | |
| ENST00000344629.12:c.137G>A MANE Select | ENSP00000342851.7:p.Arg46Gln | |
| ENST00000302003.11:c.137G>A | ENSP00000305584.7:p.Arg46Gln | |
| ENST00000302008.12:c.137G>A | ENSP00000305527.8:p.Arg46Gln | |
| ENST00000302036.11:c.137G>A | ENSP00000306561.7:p.Arg46Gln | |
| ENST00000339511.9:c.137G>A | ENSP00000345520.5:p.Arg46Gln | |
| ENST00000344629.11:c.137G>A | ENSP00000342851.7:p.Arg46Gln | |
| ENST00000349503.9:c.137G>A | ENSP00000303132.6:p.Arg46Gln | |
| ENST00000383826.9:c.137G>A | ENSP00000373337.5:p.Arg46Gln | |
| ENST00000425665.1:c.137G>A | ENSP00000396034.1:p.Arg46Gln | |
| ENST00000429146.5:c.69G>A | ||
| ENST00000436092.1:n.406G>A | ||
| ENST00000441094.5:c.78G>A | ||
| ENST00000449570.6:c.137G>A | ENSP00000403598.2:p.Arg46Gln | |
| NM_002542.5:c.137G>A | NP_002533.1:p.Arg46Gln | |
| NM_016819.3:c.137G>A | NP_058212.1:p.Arg46Gln | |
| NM_016820.3:c.137G>A | NP_058213.1:p.Arg46Gln | |
| NM_016821.2:c.137G>A | NP_058214.1:p.Arg46Gln | |
| NM_016826.2:c.137G>A | NP_058434.1:p.Arg46Gln | |
| NM_016827.2:c.137G>A | NP_058436.1:p.Arg46Gln | |
| NM_016828.2:c.137G>A | NP_058437.1:p.Arg46Gln | |
| NM_016829.2:c.137G>A | NP_058438.1:p.Arg46Gln | |
| XM_011533760.1:c.137G>A | XP_011532062.1:p.Arg46Gln | |
| XM_011533761.1:c.137G>A | XP_011532063.1:p.Arg46Gln | |
| NM_001354648.1:c.137G>A | NP_001341577.1:p.Arg46Gln | |
| NM_001354649.1:c.137G>A | NP_001341578.1:p.Arg46Gln | |
| NM_001354650.1:c.137G>A | NP_001341579.1:p.Arg46Gln | |
| NM_001354651.1:c.137G>A | NP_001341580.1:p.Arg46Gln | |
| NM_001354652.1:c.137G>A | NP_001341581.1:p.Arg46Gln | |
| NR_148930.1:n.480G>A | ||
| NR_148931.1:n.480G>A | ||
| NR_148932.1:n.480G>A | ||
| XM_011533760.2:c.137G>A | XP_011532062.1:p.Arg46Gln | |
| XM_017006493.2:c.137G>A | XP_016861982.1:p.Arg46Gln | |
| XM_017006494.2:c.137G>A | XP_016861983.1:p.Arg46Gln | |
| XM_017006495.2:c.137G>A | XP_016861984.1:p.Arg46Gln | |
| XM_017006496.2:c.137G>A | XP_016861985.1:p.Arg46Gln | |
| XM_017006497.2:c.137G>A | XP_016861986.1:p.Arg46Gln | |
| XM_017006499.2:c.137G>A | XP_016861988.1:p.Arg46Gln | |
| XR_001740156.2:n.433G>A | ||
| NM_001354648.2:c.137G>A | NP_001341577.1:p.Arg46Gln | |
| NM_001354649.2:c.137G>A | NP_001341578.1:p.Arg46Gln | |
| NM_001354650.2:c.137G>A | NP_001341579.1:p.Arg46Gln | |
| NM_001354651.2:c.137G>A | NP_001341580.1:p.Arg46Gln | |
| NM_001354652.2:c.137G>A | NP_001341581.1:p.Arg46Gln | |
| NM_002542.6:c.137G>A MANE Select | NP_002533.1:p.Arg46Gln | |
| NM_016819.4:c.137G>A | NP_058212.1:p.Arg46Gln | |
| NM_016820.4:c.137G>A | NP_058213.1:p.Arg46Gln | |
| NM_016821.3:c.137G>A | NP_058214.1:p.Arg46Gln | |
| NM_016826.3:c.137G>A | NP_058434.1:p.Arg46Gln | |
| NM_016827.3:c.137G>A | NP_058436.1:p.Arg46Gln | |
| NM_016828.3:c.137G>A | NP_058437.1:p.Arg46Gln | |
| NM_016829.3:c.137G>A | NP_058438.1:p.Arg46Gln | |
| NR_148930.2:n.472G>A | ||
| NR_148931.2:n.472G>A | ||
| NR_148932.2:n.472G>A |