Linked Data
ClinVar Variation Id:
185354
ClinVar RCV Id:
RCV000164762
RCV000408787
RCV000494213
RCV000762993
RCV001257532
RCV003462148
RCV003162694
dbSNP Id:
rs786202112
gnomAD v4:
17-31327839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31327839G>A , CM000679.2:g.31327839G>A | GRCh38 |
| NC_000017.10:g.29654857G>A , CM000679.1:g.29654857G>A | GRCh37 |
| NC_000017.9:g.26678983G>A | NCBI36 |
| NG_009018.1:g.237863G>A , LRG_214:g.237863G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1797G>A | ENSP00000492721.2:n.1797G>A | |
| ENST00000696138.1:c.5591G>A | ENSP00000512431.1:p.Arg1864Gln | |
| ENST00000684826.1:c.173G>A | ENSP00000509994.1:p.Arg58Gln | |
| ENST00000687027.1:c.-236+1587G>A | ENSP00000508715.1:n.-236+1587G>A | |
| ENST00000687863.1:n.2254G>A | ||
| ENST00000691014.1:c.5639G>A | ENSP00000510595.1:p.Arg1880Gln | |
| ENST00000693617.1:c.173G>A | ENSP00000510031.1:p.Arg58Gln | |
| ENST00000358273.9:c.5609G>A MANE Select | ENSP00000351015.4:p.Arg1870Gln | |
| ENST00000356175.7:c.5546G>A | ENSP00000348498.3:p.Arg1849Gln | |
| ENST00000358273.8:c.5609G>A | ENSP00000351015.4:p.Arg1870Gln | |
| ENST00000456735.6:c.4544G>A | ENSP00000389907.2:p.Arg1515Gln | |
| ENST00000493220.5:n.4082G>A | ||
| ENST00000579081.5:c.5745G>A | ENSP00000462408.1:n.5745G>A | |
| ENST00000581113.6:n.926G>A | ||
| NM_000267.3:c.5546G>A , LRG_214t1:c.5546G>A | NP_000258.1:p.Arg1849Gln | |
| NM_001042492.2:c.5609G>A , LRG_214t2:c.5609G>A | NP_001035957.1:p.Arg1870Gln | |
| XM_005257983.1:c.5609G>A | XP_005258040.1:p.Arg1870Gln | |
| XM_005257984.1:c.5546G>A | XP_005258041.1:p.Arg1849Gln | |
| XM_006721922.1:c.5639G>A | XP_006721985.1:p.Arg1880Gln | |
| XM_006721923.2:c.5600G>A | XP_006721986.1:p.Arg1867Gln | |
| XM_006721924.1:c.5639G>A | XP_006721987.1:p.Arg1880Gln | |
| XM_006721925.1:c.5576G>A | XP_006721988.1:p.Arg1859Gln | |
| XM_006721926.2:c.5639G>A | XP_006721989.1:p.Arg1880Gln | |
| XM_006721927.1:c.5639G>A | XP_006721990.1:p.Arg1880Gln | |
| XM_011524852.1:c.5636G>A | XP_011523154.1:p.Arg1879Gln | |
| XM_011524853.1:c.5600G>A | XP_011523155.1:p.Arg1867Gln | |
| XM_011524854.1:c.5600G>A | XP_011523156.1:p.Arg1867Gln | |
| XM_011524855.1:c.5600G>A | XP_011523157.1:p.Arg1867Gln | |
| XM_011524856.1:c.5600G>A | XP_011523158.1:p.Arg1867Gln | |
| XM_011524857.1:c.5639G>A | XP_011523159.1:p.Arg1880Gln | |
| NM_001042492.3:c.5609G>A MANE Select | NP_001035957.1:p.Arg1870Gln |