Linked Data
ClinVar Variation Id:
60545
ClinVar RCV Id:
RCV000054439
RCV000209893
RCV000520160
RCV000553832
RCV001266808
RCV001542745
RCV001814035
RCV003114235
dbSNP Id:
rs202160208
ExAC:
3:49759489 C / T
gnomAD v2:
3-49759489-C-T
gnomAD v3:
3-49722056-C-T
gnomAD v4:
3-49722056-C-T
PubMed:
PMID:23768512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49722056C>T , CM000665.2:g.49722056C>T | GRCh38 |
| NC_000003.11:g.49759489C>T , CM000665.1:g.49759489C>T | GRCh37 |
| NC_000003.10:g.49734493C>T | NCBI36 |
| NG_011603.1:g.37500C>T | |
| NG_033731.1:g.6919G>A | |
| NG_033731.2:g.6919G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308388.7:c.860G>A MANE Select | ENSP00000311130.6:p.Arg287Gln | |
| ENST00000481959.2:n.1433G>A | ||
| ENST00000495627.2:c.968G>A | ENSP00000503768.1:p.Arg323Gln | |
| ENST00000677393.1:c.653G>A | ENSP00000503880.1:p.Arg218Gln | |
| ENST00000678010.1:c.494G>A | ENSP00000503176.1:p.Arg165Gln | |
| ENST00000678208.1:n.1294G>A | ||
| ENST00000678853.1:c.*151G>A | ENSP00000504692.1:n.*151G>A | |
| ENST00000308375.10:c.860G>A | ENSP00000309092.6:p.Arg287Gln | |
| ENST00000308388.6:c.860G>A | ENSP00000311130.6:p.Arg287Gln | |
| ENST00000480687.5:c.860G>A | ENSP00000418565.1:p.Arg287Gln | |
| NM_013334.3:c.860G>A | NP_037466.2:p.Arg287Gln | |
| NM_021971.2:c.860G>A | NP_068806.1:p.Arg287Gln | |
| NM_021971.4:c.860G>A MANE Select | NP_068806.2:p.Arg287Gln | |
| NM_013334.4:c.860G>A | NP_037466.3:p.Arg287Gln |