Linked Data
ClinVar Variation Id:
1416009
ClinVar RCV Id:
RCV001921135
dbSNP Id:
rs760738362
gnomAD v2:
17-4802074-T-C
gnomAD v4:
17-4898779-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898779T>C , CM000679.2:g.4898779T>C | GRCh38 |
| NC_000017.10:g.4802074T>C , CM000679.1:g.4802074T>C | GRCh37 |
| NC_000017.9:g.4742853T>C | NCBI36 |
| NG_008029.2:g.9297A>G | |
| NG_028005.1:g.70440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1439A>G MANE Select | ENSP00000497829.1:p.Asn480Ser | |
| ENST00000649830.1:c.*75A>G | ENSP00000496907.1:n.*75A>G | |
| ENST00000652550.1:n.1165A>G | ||
| ENST00000293780.4:c.1439A>G | ENSP00000293780.4:p.Asn480Ser | |
| ENST00000572438.1:n.1125A>G | ||
| NM_000080.3:c.1439A>G | NP_000071.1:p.Asn480Ser | |
| NM_000080.4:c.1439A>G MANE Select | NP_000071.1:p.Asn480Ser | |
| XM_017024115.1:c.1403A>G | XP_016879604.1:p.Asn468Ser |