Linked Data
ClinVar Variation Id:
323960
ClinVar RCV Id:
RCV000346951
dbSNP Id:
rs886053117
gnomAD v3:
17-4898114-G-A
gnomAD v4:
17-4898114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898114G>A , CM000679.2:g.4898114G>A | GRCh38 |
| NC_000017.10:g.4801409G>A , CM000679.1:g.4801409G>A | GRCh37 |
| NC_000017.9:g.4742188G>A | NCBI36 |
| NG_008029.2:g.9962C>T | |
| NG_028005.1:g.69775G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649488.2:c.*622C>T MANE Select | ENSP00000497829.1:n.*622C>T | |
| ENST00000649830.1:c.*740C>T | ENSP00000496907.1:n.*740C>T | |
| ENST00000652550.1:n.1830C>T | ||
| ENST00000293780.4:c.*622C>T | ENSP00000293780.4:n.*622C>T | |
| ENST00000572438.1:n.1790C>T | ||
| NM_000080.3:c.*622C>T | NP_000071.1:n.*622C>T | |
| NM_000080.4:c.*622C>T MANE Select | NP_000071.1:n.*622C>T | |
| XM_017024115.1:c.*622C>T | XP_016879604.1:n.*622C>T |