Linked Data
ClinVar Variation Id:
2235658
dbSNP Id:
rs528584911
ExAC:
17:4802071 C / A
gnomAD v2:
17-4802071-C-A
gnomAD v3:
17-4898776-C-A
gnomAD v4:
17-4898776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898776C>A , CM000679.2:g.4898776C>A | GRCh38 |
| NC_000017.10:g.4802071C>A , CM000679.1:g.4802071C>A | GRCh37 |
| NC_000017.9:g.4742850C>A | NCBI36 |
| NG_008029.2:g.9300G>T | |
| NG_028005.1:g.70437C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1442G>T MANE Select | ENSP00000497829.1:p.Arg481Leu | |
| ENST00000649830.1:c.*78G>T | ENSP00000496907.1:n.*78G>T | |
| ENST00000652550.1:n.1168G>T | ||
| ENST00000293780.4:c.1442G>T | ENSP00000293780.4:p.Arg481Leu | |
| ENST00000572438.1:n.1128G>T | ||
| NM_000080.3:c.1442G>T | NP_000071.1:p.Arg481Leu | |
| NM_000080.4:c.1442G>T MANE Select | NP_000071.1:p.Arg481Leu | |
| XM_017024115.1:c.1406G>T | XP_016879604.1:p.Arg469Leu |