Linked Data
ClinVar Variation Id:
799593
ClinVar RCV Id:
RCV000983203
dbSNP Id:
rs908362696
gnomAD v2:
11-5246992-G-A
gnomAD v3:
11-5225762-G-A
gnomAD v4:
11-5225762-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225762G>A , CM000673.2:g.5225762G>A | GRCh38 |
| NC_000011.9:g.5246992G>A , CM000673.1:g.5246992G>A | GRCh37 |
| NC_000011.8:g.5203568G>A | NCBI36 |
| NG_000007.3:g.71854C>T | |
| NG_059281.1:g.6310C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-36C>T | ENSP00000494175.1:n.316-36C>T | |
| ENST00000335295.4:c.316-36C>T MANE Select | ENSP00000333994.3:n.316-36C>T | |
| ENST00000475226.1:n.248-36C>T | ||
| ENST00000633227.1:c.*132-36C>T | ENSP00000488004.1:n.*132-36C>T | |
| NM_000518.4:c.316-36C>T | NP_000509.1:n.316-36C>T | |
| NM_000518.5:c.316-36C>T MANE Select | NP_000509.1:n.316-36C>T |