Linked Data
ClinVar Variation Id:
2046507
ClinVar RCV Id:
RCV002913714
dbSNP Id:
rs1303923072
gnomAD v3:
6-31969708-C-A
gnomAD v4:
6-31969708-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969708C>A , CM000668.2:g.31969708C>A | GRCh38 |
| NC_000006.11:g.31937485C>A , CM000668.1:g.31937485C>A | GRCh37 |
| NC_000006.10:g.32045464C>A | NCBI36 |
| NG_032652.1:g.15905C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2782C>A | ENSP00000419905.1:n.*2782C>A | |
| ENST00000485349.6:n.4210C>A | ||
| ENST00000491994.2:c.*276C>A | ENSP00000417586.2:n.*276C>A | |
| ENST00000494058.6:n.4036C>A | ||
| ENST00000697831.1:c.3665C>A | ENSP00000513453.1:p.Thr1222Asn | |
| ENST00000697832.1:n.3887C>A | ||
| ENST00000697834.1:n.4452C>A | ||
| ENST00000697835.1:c.*3252C>A | ENSP00000513455.1:n.*3252C>A | |
| ENST00000697837.1:c.*850C>A | ENSP00000513456.1:n.*850C>A | |
| ENST00000697838.1:c.3599C>A | ENSP00000513457.1:p.Thr1200Asn | |
| ENST00000697839.1:n.4546C>A | ||
| ENST00000697840.1:c.3770C>A | ENSP00000513458.1:p.Thr1257Asn | |
| ENST00000697841.1:n.4645C>A | ||
| ENST00000697842.1:n.3989C>A | ||
| ENST00000375394.7:c.3734C>A MANE Select | ENSP00000364543.2:p.Thr1245Asn | |
| ENST00000375394.6:c.3734C>A | ENSP00000364543.2:p.Thr1245Asn | |
| ENST00000465703.5:n.4464C>A | ||
| ENST00000471818.1:n.663C>A | ||
| ENST00000474839.5:c.*3106C>A | ENSP00000420470.1:n.*3106C>A | |
| ENST00000483553.5:c.1264C>A | ||
| ENST00000491994.1:c.823C>A | ||
| NM_006929.4:c.3734C>A | NP_008860.4:p.Thr1245Asn | |
| XR_926301.3:n.3750C>A | ||
| NM_006929.5:c.3734C>A MANE Select | NP_008860.4:p.Thr1245Asn |