Linked Data
ClinVar Variation Id:
1310462
ClinVar RCV Id:
RCV001767576
dbSNP Id:
rs200748493
gnomAD v2:
2-44126366-G-C
gnomAD v3:
2-43899227-G-C
gnomAD v4:
2-43899227-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899227G>C , CM000664.2:g.43899227G>C | GRCh38 |
| NC_000002.11:g.44126366G>C , CM000664.1:g.44126366G>C | GRCh37 |
| NC_000002.10:g.43979870G>C | NCBI36 |
| NG_008247.1:g.101779C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.248C>G | ||
| ENST00000472420.6:n.896C>G | ||
| ENST00000483489.2:n.248C>G | ||
| ENST00000681993.1:n.1369C>G | ||
| ENST00000682303.1:c.*3603C>G | ENSP00000508325.1:n.*3603C>G | |
| ENST00000682308.1:c.3817C>G | ENSP00000507056.1:p.Leu1273Val | |
| ENST00000682434.1:n.1368C>G | ||
| ENST00000682480.1:c.3835C>G | ENSP00000508344.1:p.Leu1279Val | |
| ENST00000682546.1:c.3814C>G | ENSP00000508188.1:p.Leu1272Val | |
| ENST00000682585.1:c.3817C>G | ENSP00000506885.1:p.Leu1273Val | |
| ENST00000682595.1:n.4401C>G | ||
| ENST00000682607.1:c.2235C>G | ||
| ENST00000682612.1:c.669C>G | ||
| ENST00000682779.1:c.3808C>G | ENSP00000507947.1:p.Leu1270Val | |
| ENST00000682885.1:c.3772C>G | ENSP00000508036.1:p.Leu1258Val | |
| ENST00000682933.1:n.3891C>G | ||
| ENST00000683002.1:c.669C>G | ||
| ENST00000683072.1:n.4401C>G | ||
| ENST00000683080.1:n.1436C>G | ||
| ENST00000683125.1:c.3925C>G | ENSP00000507939.1:p.Leu1309Val | |
| ENST00000683213.1:c.3820C>G | ENSP00000507751.1:p.Leu1274Val | |
| ENST00000683220.1:c.3847C>G | ENSP00000507151.1:p.Leu1283Val | |
| ENST00000683329.1:n.4620C>G | ||
| ENST00000683346.1:c.*3692C>G | ENSP00000507458.1:n.*3692C>G | |
| ENST00000683409.1:n.2424C>G | ||
| ENST00000683459.1:n.4404C>G | ||
| ENST00000683528.1:c.745C>G | ||
| ENST00000683590.1:c.3565C>G | ENSP00000506820.1:p.Leu1189Val | |
| ENST00000683623.1:c.3724C>G | ENSP00000507702.1:p.Leu1242Val | |
| ENST00000683645.1:n.4368C>G | ||
| ENST00000683796.1:c.*3689C>G | ENSP00000508221.1:n.*3689C>G | |
| ENST00000683833.1:c.3808C>G | ENSP00000506852.1:p.Leu1270Val | |
| ENST00000683994.1:c.3817C>G | ENSP00000507181.1:p.Leu1273Val | |
| ENST00000684290.1:c.*1353C>G | ENSP00000507243.1:n.*1353C>G | |
| ENST00000684306.1:c.*3730C>G | ENSP00000508384.1:n.*3730C>G | |
| ENST00000684341.1:n.3837C>G | ||
| ENST00000684383.1:c.*3455C>G | ENSP00000506863.1:n.*3455C>G | |
| ENST00000684418.1:n.4998C>G | ||
| ENST00000684433.1:n.201C>G | ||
| ENST00000684454.1:n.3167C>G | ||
| ENST00000684619.1:c.*3689C>G | ENSP00000508088.1:n.*3689C>G | |
| ENST00000684743.1:n.6562C>G | ||
| ENST00000260665.12:c.3817C>G MANE Select | ENSP00000260665.7:p.Leu1273Val | |
| ENST00000260665.11:c.3817C>G | ENSP00000260665.7:p.Leu1273Val | |
| ENST00000419884.5:c.58C>G | ENSP00000414207.1:p.Leu20Val | |
| ENST00000463456.5:n.2860C>G | ||
| ENST00000472420.5:n.214C>G | ||
| ENST00000483489.1:n.291C>G | ||
| NM_133259.3:c.3817C>G | NP_573566.2:p.Leu1273Val | |
| XM_006711915.2:c.3739C>G | XP_006711978.1:p.Leu1247Val | |
| XM_011532473.1:c.3817C>G | XP_011530775.1:p.Leu1273Val | |
| XM_011532474.1:c.3817C>G | XP_011530776.1:p.Leu1273Val | |
| XM_017003117.1:c.3739C>G | XP_016858606.1:p.Leu1247Val | |
| XR_002958896.1:n.3859C>G | ||
| NM_133259.4:c.3817C>G MANE Select | NP_573566.2:p.Leu1273Val |