ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134566183G>A , CM000667.2:g.134566183G>A | GRCh38 |
| NC_000005.9:g.133901873G>A , CM000667.1:g.133901873G>A | GRCh37 |
| NC_000005.8:g.133929772G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681547.2:c.1037G>A MANE Select | ENSP00000505514.1:p.Arg346Gln | |
| ENST00000430087.2:c.1037G>A | ENSP00000396026.2:p.Arg346Gln | |
| ENST00000431355.2:c.1037G>A | ENSP00000406189.2:p.Arg346Gln | |
| ENST00000512386.6:c.1037G>A | ENSP00000422991.2:p.Arg346Gln | |
| ENST00000612830.2:c.1037G>A | ENSP00000483173.2:p.Arg346Gln | |
| ENST00000680418.1:c.*814G>A | ENSP00000505983.1:n.*814G>A | |
| ENST00000681019.1:c.*991G>A | ENSP00000505283.1:n.*991G>A | |
| ENST00000681498.1:c.1037G>A | ENSP00000506360.1:p.Arg346Gln | |
| ENST00000681547.1:c.1037G>A | ENSP00000505514.1:p.Arg346Gln | |
| ENST00000681820.1:c.1037G>A | ENSP00000506115.1:p.Arg346Gln | |
| ENST00000282605.8:c.1037G>A | ENSP00000282605.4:p.Arg346Gln | |
| ENST00000361895.6:c.1037G>A | ENSP00000354425.2:p.Arg346Gln | |
| ENST00000395003.5:c.1037G>A | ENSP00000378451.1:p.Arg346Gln | |
| ENST00000402835.5:c.1037G>A | ENSP00000384671.1:p.Arg346Gln | |
| ENST00000470876.1:n.507G>A | ||
| NM_001289984.1:c.1037G>A | NP_001276913.1:p.Arg346Gln | |
| NM_001289985.1:c.1085G>A | NP_001276914.1:p.Arg362Gln | |
| NM_001308143.1:c.1037G>A | NP_001295072.1:p.Arg346Gln | |
| NM_015288.5:c.1037G>A | NP_056103.4:p.Arg346Gln | |
| XM_005271945.1:c.1037G>A | XP_005272002.1:p.Arg346Gln | |
| XM_005271946.1:c.1037G>A | XP_005272003.1:p.Arg346Gln | |
| XM_005271948.3:c.1037G>A | XP_005272005.1:p.Arg346Gln | |
| XM_011543291.1:c.1037G>A | XP_011541593.1:p.Arg346Gln | |
| XM_011543292.1:c.1037G>A | XP_011541594.1:p.Arg346Gln | |
| XM_011543293.1:c.1037G>A | XP_011541595.1:p.Arg346Gln | |
| XM_011543294.1:c.1037G>A | XP_011541596.1:p.Arg346Gln | |
| XM_005271945.2:c.1037G>A | XP_005272002.1:p.Arg346Gln | |
| XM_005271946.2:c.1037G>A | XP_005272003.1:p.Arg346Gln | |
| XM_005271948.4:c.1037G>A | XP_005272005.1:p.Arg346Gln | |
| XM_011543291.3:c.1037G>A | XP_011541593.1:p.Arg346Gln | |
| XM_017009282.1:c.1037G>A | XP_016864771.1:p.Arg346Gln | |
| XM_024446007.1:c.1019G>A | XP_024301775.1:p.Arg340Gln | |
| NM_001289984.2:c.1037G>A | NP_001276913.1:p.Arg346Gln | |
| NM_001289985.2:c.1085G>A | NP_001276914.1:p.Arg362Gln | |
| NM_001308143.2:c.1037G>A | NP_001295072.1:p.Arg346Gln | |
| NM_015288.6:c.1037G>A | NP_056103.4:p.Arg346Gln | |
| NM_001388185.1:c.1037G>A MANE Select | NP_001375114.1:p.Arg346Gln | |
| NM_001388186.1:c.1037G>A | NP_001375115.1:p.Arg346Gln | |
| NM_001388187.1:c.1037G>A | NP_001375116.1:p.Arg346Gln | |
| NM_001388188.1:c.1037G>A | NP_001375117.1:p.Arg346Gln |