Linked Data
ClinVar Variation Id:
60540
ClinVar RCV Id:
RCV000054433
RCV000054432
RCV000651273
RCV000788090
RCV002513710
RCV004549480
RCV001836725
dbSNP Id:
rs397509422
ExAC:
3:49759268 C / T
gnomAD v2:
3-49759268-C-T
gnomAD v3:
3-49721835-C-T
gnomAD v4:
3-49721835-C-T
PubMed:
PMID:23768512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49721835C>T , CM000665.2:g.49721835C>T | GRCh38 |
| NC_000003.11:g.49759268C>T , CM000665.1:g.49759268C>T | GRCh37 |
| NC_000003.10:g.49734272C>T | NCBI36 |
| NG_011603.1:g.37279C>T | |
| NG_033731.1:g.7140G>A | |
| NG_033731.2:g.7140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.1000G>A MANE Select | ENSP00000311130.6:p.Asp334Asn | |
| ENST00000481959.2:n.1573G>A | ||
| ENST00000495627.2:c.1108G>A | ENSP00000503768.1:p.Asp370Asn | |
| ENST00000677393.1:c.*17G>A | ENSP00000503880.1:n.*17G>A | |
| ENST00000678010.1:c.634G>A | ENSP00000503176.1:p.Asp212Asn | |
| ENST00000678208.1:n.1434G>A | ||
| ENST00000678853.1:c.*291G>A | ENSP00000504692.1:n.*291G>A | |
| ENST00000308375.10:c.1081G>A | ENSP00000309092.6:p.Asp361Asn | |
| ENST00000308388.6:c.1000G>A | ENSP00000311130.6:p.Asp334Asn | |
| ENST00000480687.5:c.1000G>A | ENSP00000418565.1:p.Asp334Asn | |
| NM_013334.3:c.1081G>A | NP_037466.2:p.Asp361Asn | |
| NM_021971.2:c.1000G>A | NP_068806.1:p.Asp334Asn | |
| NM_021971.4:c.1000G>A MANE Select | NP_068806.2:p.Asp334Asn | |
| NM_013334.4:c.1081G>A | NP_037466.3:p.Asp361Asn |