Linked Data
ClinVar Variation Id:
253103
ClinVar RCV Id:
RCV000239531
dbSNP Id:
rs748749078
ExAC:
22:19470341 C / T
gnomAD v2:
22-19470341-C-T
gnomAD v4:
22-19482818-C-T
PubMed:
PMID:27374770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19482818C>T , CM000684.2:g.19482818C>T | GRCh38 |
| NC_000022.10:g.19470341C>T , CM000684.1:g.19470341C>T | GRCh37 |
| NC_000022.9:g.17850341C>T | NCBI36 |
| NG_052958.1:g.7993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263201.7:c.333C>T MANE Select | ENSP00000263201.2:p.Asn111= | |
| ENST00000407835.6:c.-172C>T | ENSP00000385240.2:n.-172C>T | |
| ENST00000438587.6:c.*205C>T | ENSP00000397434.2:n.*205C>T | |
| ENST00000672837.1:c.205-1044C>T | ENSP00000499976.1:n.205-1044C>T | |
| ENST00000263201.5:c.333C>T | ENSP00000263201.1:p.Asn111= | |
| ENST00000404724.7:c.205-1044C>T | ENSP00000384978.3:n.205-1044C>T | |
| ENST00000407835.5:c.333C>T | ENSP00000385240.1:p.Asn111= | |
| ENST00000428937.1:c.68C>T | ||
| ENST00000437685.6:c.333C>T | ENSP00000405726.2:p.Asn111= | |
| ENST00000438587.5:c.297C>T | ENSP00000397434.1:p.Asn99= | |
| ENST00000455750.5:c.333C>T | ENSP00000413138.1:p.Asn111= | |
| ENST00000483431.5:n.401C>T | ||
| ENST00000487669.5:n.290C>T | ||
| ENST00000491520.5:n.702C>T | ||
| NM_001178010.2:c.333C>T | NP_001171481.1:p.Asn111= | |
| NM_001178011.2:c.205-1044C>T | NP_001171482.1:n.205-1044C>T | |
| NM_003504.4:c.333C>T | NP_003495.1:p.Asn111= | |
| XM_005261285.2:c.333C>T | XP_005261342.1:p.Asn111= | |
| XM_005261286.3:c.333C>T | XP_005261343.1:p.Asn111= | |
| XM_011530415.1:c.333C>T | XP_011528717.1:p.Asn111= | |
| XM_011530416.1:c.297C>T | XP_011528718.1:p.Asn99= | |
| XM_011530417.1:c.205-1044C>T | XP_011528719.1:n.205-1044C>T | |
| XM_011530418.1:c.205-1044C>T | XP_011528720.1:n.205-1044C>T | |
| XM_011530419.1:c.-307C>T | XP_011528721.1:n.-307C>T | |
| XR_937930.1:n.569C>T | ||
| XM_011530417.3:c.205-1044C>T | XP_011528719.1:n.205-1044C>T | |
| XM_011530418.3:c.205-1044C>T | XP_011528720.1:n.205-1044C>T | |
| XM_024452277.1:c.333C>T | XP_024308045.1:p.Asn111= | |
| XM_024452278.1:c.297C>T | XP_024308046.1:p.Asn99= | |
| XR_002958715.1:n.411C>T | ||
| XR_002958716.1:n.626-1044C>T | ||
| NM_001369291.1:c.297C>T | NP_001356220.1:p.Asn99= | |
| NM_003504.5:c.333C>T MANE Select | NP_003495.1:p.Asn111= | |
| NR_161281.1:n.382C>T |