Linked Data
ClinVar Variation Id:
2177377
ClinVar RCV Id:
RCV002610436
dbSNP Id:
rs2104989421
gnomAD v3:
2-43899330-G-C
gnomAD v4:
2-43899330-G-C
COSMIC:
COSM3391739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899330G>C , CM000664.2:g.43899330G>C | GRCh38 |
| NC_000002.11:g.44126469G>C , CM000664.1:g.44126469G>C | GRCh37 |
| NC_000002.10:g.43979973G>C | NCBI36 |
| NG_008247.1:g.101676C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.145C>G | ||
| ENST00000472420.6:n.793C>G | ||
| ENST00000483489.2:n.145C>G | ||
| ENST00000681993.1:n.1266C>G | ||
| ENST00000682303.1:c.*3500C>G | ENSP00000508325.1:n.*3500C>G | |
| ENST00000682308.1:c.3714C>G | ENSP00000507056.1:p.Ser1238Arg | |
| ENST00000682434.1:n.1265C>G | ||
| ENST00000682480.1:c.3732C>G | ENSP00000508344.1:p.Ser1244Arg | |
| ENST00000682546.1:c.3711C>G | ENSP00000508188.1:p.Ser1237Arg | |
| ENST00000682585.1:c.3714C>G | ENSP00000506885.1:p.Ser1238Arg | |
| ENST00000682595.1:n.4298C>G | ||
| ENST00000682607.1:c.2132C>G | ||
| ENST00000682612.1:c.566C>G | ||
| ENST00000682779.1:c.3705C>G | ENSP00000507947.1:p.Ser1235Arg | |
| ENST00000682845.1:n.2816C>G | ||
| ENST00000682885.1:c.3669C>G | ENSP00000508036.1:p.Ser1223Arg | |
| ENST00000682933.1:n.3788C>G | ||
| ENST00000683002.1:c.566C>G | ||
| ENST00000683072.1:n.4298C>G | ||
| ENST00000683080.1:n.1333C>G | ||
| ENST00000683125.1:c.3822C>G | ENSP00000507939.1:p.Ser1274Arg | |
| ENST00000683213.1:c.3717C>G | ENSP00000507751.1:p.Ser1239Arg | |
| ENST00000683220.1:c.3744C>G | ENSP00000507151.1:p.Ser1248Arg | |
| ENST00000683329.1:n.4517C>G | ||
| ENST00000683346.1:c.*3589C>G | ENSP00000507458.1:n.*3589C>G | |
| ENST00000683409.1:n.2321C>G | ||
| ENST00000683459.1:n.4301C>G | ||
| ENST00000683528.1:c.642C>G | ||
| ENST00000683590.1:c.3462C>G | ENSP00000506820.1:p.Ser1154Arg | |
| ENST00000683623.1:c.3621C>G | ENSP00000507702.1:p.Ser1207Arg | |
| ENST00000683645.1:n.4265C>G | ||
| ENST00000683796.1:c.*3586C>G | ENSP00000508221.1:n.*3586C>G | |
| ENST00000683802.1:n.6639C>G | ||
| ENST00000683833.1:c.3705C>G | ENSP00000506852.1:p.Ser1235Arg | |
| ENST00000683994.1:c.3714C>G | ENSP00000507181.1:p.Ser1238Arg | |
| ENST00000684290.1:c.*1250C>G | ENSP00000507243.1:n.*1250C>G | |
| ENST00000684306.1:c.*3627C>G | ENSP00000508384.1:n.*3627C>G | |
| ENST00000684341.1:n.3734C>G | ||
| ENST00000684383.1:c.*3352C>G | ENSP00000506863.1:n.*3352C>G | |
| ENST00000684418.1:n.4895C>G | ||
| ENST00000684433.1:n.98C>G | ||
| ENST00000684454.1:n.3064C>G | ||
| ENST00000684619.1:c.*3586C>G | ENSP00000508088.1:n.*3586C>G | |
| ENST00000684743.1:n.6459C>G | ||
| ENST00000260665.12:c.3714C>G MANE Select | ENSP00000260665.7:p.Ser1238Arg | |
| ENST00000260665.11:c.3714C>G | ENSP00000260665.7:p.Ser1238Arg | |
| ENST00000463456.5:n.2757C>G | ||
| ENST00000472420.5:n.111C>G | ||
| ENST00000483489.1:n.188C>G | ||
| NM_133259.3:c.3714C>G | NP_573566.2:p.Ser1238Arg | |
| XM_006711915.2:c.3636C>G | XP_006711978.1:p.Ser1212Arg | |
| XM_011532473.1:c.3714C>G | XP_011530775.1:p.Ser1238Arg | |
| XM_011532474.1:c.3714C>G | XP_011530776.1:p.Ser1238Arg | |
| XM_017003117.1:c.3636C>G | XP_016858606.1:p.Ser1212Arg | |
| XR_002958896.1:n.3756C>G | ||
| NM_133259.4:c.3714C>G MANE Select | NP_573566.2:p.Ser1238Arg |