Linked Data
ClinVar Variation Id:
305452
ClinVar RCV Id:
RCV000309609
dbSNP Id:
rs1893316
ExAC:
11:65793797 G / A
gnomAD v2:
11-65793797-G-A
gnomAD v3:
11-66026326-G-A
gnomAD v4:
11-66026326-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66026326G>A , CM000673.2:g.66026326G>A | GRCh38 |
| NC_000011.9:g.65793797G>A , CM000673.1:g.65793797G>A | GRCh37 |
| NC_000011.8:g.65550373G>A | NCBI36 |
| NG_016285.1:g.5192C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312106.6:c.54C>T MANE Select | ENSP00000309052.5:p.Asn18= | |
| ENST00000312106.5:c.54C>T | ENSP00000309052.5:p.Asn18= | |
| NM_053054.3:c.54C>T | NP_444282.3:p.Asn18= | |
| XR_949785.1:n.194C>T | ||
| XR_949786.1:n.194C>T | ||
| XR_949787.1:n.194C>T | ||
| XR_002957121.1:n.192C>T | ||
| XR_002957122.1:n.193C>T | ||
| XR_949785.2:n.192C>T | ||
| XR_949787.2:n.193C>T | ||
| NM_053054.4:c.54C>T MANE Select | NP_444282.3:p.Asn18= |