ClinVar Variation:
COSMIC:
COSM4985051
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38248431 (AFR)
Genomes Max Group AF
0.37614026 (AFR)
Exomes Max Group AF
0.38689813 (AFR)
Revel Score:
ENST00000264668
0.110
ENST00000440940 (MANE Select)
0.110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7885846A>G , CM000667.2:g.7885846A>G | GRCh38 |
| NC_000005.9:g.7885959A>G , CM000667.1:g.7885959A>G | GRCh37 |
| NC_000005.8:g.7938959A>G | NCBI36 |
| NG_008856.1:g.21743A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.1049A>G MANE Select | ENSP00000402510.2:p.Lys350Arg | |
| ENST00000264668.6:c.1130A>G | ENSP00000264668.2:p.Lys377Arg | |
| ENST00000440940.6:c.1049A>G | ENSP00000402510.2:p.Lys350Arg | |
| ENST00000508101.5:n.289A>G | ||
| ENST00000509961.5:n.62A>G | ||
| ENST00000510525.5:c.1074A>G | ||
| ENST00000511461.5:c.962A>G | ||
| ENST00000513439.5:c.*756A>G | ENSP00000426710.1:n.*756A>G | |
| NM_002454.2:c.1049A>G | NP_002445.2:p.Lys350Arg | |
| NM_024010.2:c.1130A>G | NP_076915.2:p.Lys377Arg | |
| XM_006714474.2:c.1130A>G | XP_006714537.1:p.Lys377Arg | |
| XM_011514043.1:c.1130A>G | XP_011512345.1:p.Lys377Arg | |
| XM_011514044.1:c.1049A>G | XP_011512346.1:p.Lys350Arg | |
| XR_241702.1:n.1152A>G | ||
| XR_241703.1:n.1145A>G | ||
| XR_925614.1:n.1152A>G | ||
| XR_925615.1:n.1152A>G | ||
| NM_001364440.1:c.1049A>G | NP_001351369.1:p.Lys350Arg | |
| NM_001364441.1:c.1049A>G | NP_001351370.1:p.Lys350Arg | |
| NM_001364442.1:c.1049A>G | NP_001351371.1:p.Lys350Arg | |
| NM_024010.3:c.1049A>G | NP_076915.3:p.Lys350Arg | |
| NR_134480.1:n.1172A>G | ||
| NR_134481.1:n.1186A>G | ||
| NR_134482.1:n.1032A>G | ||
| NR_157168.1:n.1102A>G | ||
| NR_157169.1:n.962A>G | ||
| NR_157170.1:n.1128A>G | ||
| NR_157171.1:n.962A>G | ||
| NR_157172.1:n.988A>G | ||
| NR_157173.1:n.1116A>G | ||
| NR_157174.1:n.988A>G | ||
| NR_157175.1:n.1142A>G | ||
| NR_157176.1:n.1282A>G | ||
| NR_157177.1:n.1137A>G | ||
| NR_157178.1:n.1142A>G | ||
| XM_024446063.1:c.1094A>G | XP_024301831.1:p.Lys365Arg | |
| XM_024446064.1:c.1049A>G | XP_024301832.1:p.Lys350Arg | |
| XR_001742071.1:n.1152A>G | ||
| XR_001742072.1:n.1152A>G | ||
| XR_001742074.1:n.1152A>G | ||
| XR_001742075.1:n.1152A>G | ||
| XR_001742076.1:n.1292A>G | ||
| XR_001742077.1:n.1292A>G | ||
| NM_001364440.2:c.1049A>G | NP_001351369.1:p.Lys350Arg | |
| NM_001364441.2:c.1049A>G | NP_001351370.1:p.Lys350Arg | |
| NM_001364442.2:c.1049A>G | NP_001351371.1:p.Lys350Arg | |
| NM_002454.3:c.1049A>G MANE Select | NP_002445.2:p.Lys350Arg | |
| NM_024010.4:c.1049A>G | NP_076915.3:p.Lys350Arg | |
| NR_134480.2:n.1128A>G | ||
| NR_134481.2:n.1142A>G | ||
| NR_134482.2:n.988A>G | ||
| NR_157168.2:n.1102A>G | ||
| NR_157169.2:n.962A>G | ||
| NR_157170.2:n.1128A>G | ||
| NR_157171.2:n.962A>G | ||
| NR_157172.2:n.988A>G | ||
| NR_157173.2:n.1116A>G | ||
| NR_157174.2:n.988A>G | ||
| NR_157175.2:n.1142A>G | ||
| NR_157176.2:n.1282A>G | ||
| NR_157177.2:n.1137A>G | ||
| NR_157178.2:n.1142A>G |