Linked Data
ClinVar Variation Id:
2082599
ClinVar RCV Id:
RCV002999259
dbSNP Id:
rs759107686
ExAC:
8:41790689 C / T
gnomAD v2:
8-41790689-C-T
gnomAD v4:
8-41933171-C-T
COSMIC:
COSM1099909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933171C>T , CM000670.2:g.41933171C>T | GRCh38 |
| NC_000008.10:g.41790689C>T , CM000670.1:g.41790689C>T | GRCh37 |
| NC_000008.9:g.41909846C>T | NCBI36 |
| NG_042093.1:g.123856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5049G>A MANE Select | ENSP00000265713.2:p.Pro1683= | |
| ENST00000396930.4:c.5049G>A | ENSP00000380136.3:p.Pro1683= | |
| ENST00000406337.6:c.5055G>A | ENSP00000385888.2:p.Pro1685= | |
| ENST00000649817.1:c.3730G>A | ||
| ENST00000265713.6:c.5049G>A | ENSP00000265713.2:p.Pro1683= | |
| ENST00000396930.3:c.5049G>A | ENSP00000380136.3:p.Pro1683= | |
| ENST00000406337.5:c.5049G>A | ENSP00000385888.1:p.Pro1683= | |
| NM_001099412.1:c.5049G>A | NP_001092882.1:p.Pro1683= | |
| NM_001099413.1:c.5049G>A | NP_001092883.1:p.Pro1683= | |
| NM_006766.3:c.5049G>A | NP_006757.2:p.Pro1683= | |
| NM_006766.4:c.5049G>A | NP_006757.2:p.Pro1683= | |
| XM_011544656.1:c.5181G>A | XP_011542958.1:p.Pro1727= | |
| XM_011544657.1:c.5181G>A | XP_011542959.1:p.Pro1727= | |
| XM_011544658.1:c.5181G>A | XP_011542960.1:p.Pro1727= | |
| XM_011544659.1:c.5160G>A | XP_011542961.1:p.Pro1720= | |
| XM_011544660.1:c.5067G>A | XP_011542962.1:p.Pro1689= | |
| XM_011544656.2:c.5181G>A | XP_011542958.1:p.Pro1727= | |
| XM_011544657.3:c.5181G>A | XP_011542959.1:p.Pro1727= | |
| XM_011544658.3:c.5181G>A | XP_011542960.1:p.Pro1727= | |
| XM_011544659.2:c.5160G>A | XP_011542961.1:p.Pro1720= | |
| XM_017013863.1:c.5049G>A | XP_016869352.1:p.Pro1683= | |
| XM_017013864.2:c.5049G>A | XP_016869353.1:p.Pro1683= | |
| XM_024447285.1:c.3621G>A | XP_024303053.1:p.Pro1207= | |
| NM_006766.5:c.5049G>A MANE Select | NP_006757.2:p.Pro1683= |