ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00022774 (SAS)
Exomes Max Group AF
0.00024019 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134578863A>G , CM000667.2:g.134578863A>G | GRCh38 |
| NC_000005.9:g.133914553A>G , CM000667.1:g.133914553A>G | GRCh37 |
| NC_000005.8:g.133942452A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681547.2:c.2051A>G MANE Select | ENSP00000505514.1:p.Gln684Arg | |
| ENST00000430087.2:c.2190A>G | ENSP00000396026.2:n.2190A>G | |
| ENST00000512386.6:c.2051A>G | ENSP00000422991.2:p.Gln684Arg | |
| ENST00000612830.2:c.2048A>G | ENSP00000483173.2:p.Gln683Arg | |
| ENST00000680418.1:c.*1825A>G | ENSP00000505983.1:n.*1825A>G | |
| ENST00000681547.1:c.2051A>G | ENSP00000505514.1:p.Gln684Arg | |
| ENST00000282605.8:c.2051A>G | ENSP00000282605.4:p.Gln684Arg | |
| ENST00000361895.6:c.1922A>G | ENSP00000354425.2:p.Gln641Arg | |
| ENST00000395003.5:c.1919A>G | ENSP00000378451.1:p.Gln640Arg | |
| ENST00000402835.5:c.*400A>G | ENSP00000384671.1:n.*400A>G | |
| ENST00000430087.1:c.644A>G | ||
| ENST00000612830.1:c.287A>G | ENSP00000483173.1:p.Gln96Arg | |
| NM_001289984.1:c.1922A>G | NP_001276913.1:p.Gln641Arg | |
| NM_001289985.1:c.2099A>G | NP_001276914.1:p.Gln700Arg | |
| NM_001308143.1:c.2051A>G | NP_001295072.1:p.Gln684Arg | |
| NM_015288.5:c.1919A>G | NP_056103.4:p.Gln640Arg | |
| XM_005271945.1:c.2051A>G | XP_005272002.1:p.Gln684Arg | |
| XM_005271946.1:c.2051A>G | XP_005272003.1:p.Gln684Arg | |
| XM_005271948.3:c.2051A>G | XP_005272005.1:p.Gln684Arg | |
| XM_011543291.1:c.2051A>G | XP_011541593.1:p.Gln684Arg | |
| XM_011543292.1:c.2048A>G | XP_011541594.1:p.Gln683Arg | |
| XM_011543293.1:c.1922A>G | XP_011541595.1:p.Gln641Arg | |
| XM_011543294.1:c.1919A>G | XP_011541596.1:p.Gln640Arg | |
| XM_005271945.2:c.2051A>G | XP_005272002.1:p.Gln684Arg | |
| XM_005271946.2:c.2051A>G | XP_005272003.1:p.Gln684Arg | |
| XM_005271948.4:c.2051A>G | XP_005272005.1:p.Gln684Arg | |
| XM_011543291.3:c.2051A>G | XP_011541593.1:p.Gln684Arg | |
| XM_017009282.1:c.2048A>G | XP_016864771.1:p.Gln683Arg | |
| XM_024446007.1:c.2033A>G | XP_024301775.1:p.Gln678Arg | |
| NM_001289984.2:c.1922A>G | NP_001276913.1:p.Gln641Arg | |
| NM_001289985.2:c.2099A>G | NP_001276914.1:p.Gln700Arg | |
| NM_001308143.2:c.2051A>G | NP_001295072.1:p.Gln684Arg | |
| NM_015288.6:c.1919A>G | NP_056103.4:p.Gln640Arg | |
| NM_001388185.1:c.2051A>G MANE Select | NP_001375114.1:p.Gln684Arg | |
| NM_001388186.1:c.2051A>G | NP_001375115.1:p.Gln684Arg | |
| NM_001388187.1:c.2051A>G | NP_001375116.1:p.Gln684Arg | |
| NM_001388188.1:c.2048A>G | NP_001375117.1:p.Gln683Arg |