Linked Data
ClinVar Variation Id:
4916
ClinVar RCV Id:
RCV000005198
RCV000254732
RCV000844622
RCV000763215
RCV001073594
RCV001274889
RCV001328020
RCV002222340
RCV002272010
RCV002512799
RCV003472972
RCV004528082
dbSNP Id:
rs111033270
ExAC:
10:73539073 G / A
gnomAD v2:
10-73539073-G-A
gnomAD v3:
10-71779316-G-A
gnomAD v4:
10-71779316-G-A
COSMIC:
COSM2161141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71779316G>A , CM000672.2:g.71779316G>A | GRCh38 |
| NC_000010.10:g.73539073G>A , CM000672.1:g.73539073G>A | GRCh37 |
| NC_000010.9:g.73209079G>A | NCBI36 |
| NG_008835.1:g.387370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5237G>A MANE Select | ENSP00000224721.9:p.Arg1746Gln | |
| ENST00000224721.10:c.5252G>A | ENSP00000224721.8:p.Arg1751Gln | |
| ENST00000622827.4:c.5237G>A | ENSP00000483211.1:p.Arg1746Gln | |
| NM_022124.5:c.5237G>A | NP_071407.4:p.Arg1746Gln | |
| XM_006717940.2:c.5432G>A | XP_006718003.1:p.Arg1811Gln | |
| XM_006717942.2:c.5366G>A | XP_006718005.1:p.Arg1789Gln | |
| XM_011540039.1:c.5429G>A | XP_011538341.1:p.Arg1810Gln | |
| XM_011540040.1:c.5426G>A | XP_011538342.1:p.Arg1809Gln | |
| XM_011540041.1:c.5372G>A | XP_011538343.1:p.Arg1791Gln | |
| XM_011540042.1:c.5432G>A | XP_011538344.1:p.Arg1811Gln | |
| XM_011540043.1:c.5432G>A | XP_011538345.1:p.Arg1811Gln | |
| XM_011540044.1:c.5297G>A | XP_011538346.1:p.Arg1766Gln | |
| XM_011540045.1:c.5432G>A | XP_011538347.1:p.Arg1811Gln | |
| XM_011540046.1:c.4892G>A | XP_011538348.1:p.Arg1631Gln | |
| XM_011540047.1:c.4250G>A | XP_011538349.1:p.Arg1417Gln | |
| XM_011540048.1:c.5432G>A | XP_011538350.1:p.Arg1811Gln | |
| XM_011540049.1:c.5432G>A | XP_011538351.1:p.Arg1811Gln | |
| XM_011540050.1:c.5432G>A | XP_011538352.1:p.Arg1811Gln | |
| XM_011540051.1:c.5432G>A | XP_011538353.1:p.Arg1811Gln | |
| XM_011540052.1:c.1760G>A | XP_011538354.1:p.Arg587Gln | |
| XM_011540053.1:c.5432G>A | XP_011538355.1:p.Arg1811Gln | |
| XR_945796.1:n.5675G>A | ||
| NM_022124.6:c.5237G>A MANE Select | NP_071407.4:p.Arg1746Gln |