Linked Data
ClinVar Variation Id:
1120768
ClinVar RCV Id:
RCV001450841
dbSNP Id:
rs776426017
ExAC:
7:92147313 G / A
gnomAD v2:
7-92147313-G-A
gnomAD v3:
7-92517999-G-A
gnomAD v4:
7-92517999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517999G>A , CM000669.2:g.92517999G>A | GRCh38 |
| NC_000007.13:g.92147313G>A , CM000669.1:g.92147313G>A | GRCh37 |
| NC_000007.12:g.91985249G>A | NCBI36 |
| NG_008341.1:g.15533C>T | |
| NG_008341.2:g.15533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.516C>T MANE Select | ENSP00000248633.4:p.Asp172= | |
| ENST00000248633.8:c.516C>T | ENSP00000248633.4:p.Asp172= | |
| ENST00000428214.5:c.516C>T | ENSP00000394413.1:p.Asp172= | |
| ENST00000438045.5:c.274-4032C>T | ENSP00000410438.1:n.274-4032C>T | |
| ENST00000484913.5:n.555C>T | ||
| NM_000466.2:c.516C>T | NP_000457.1:p.Asp172= | |
| NM_001282677.1:c.516C>T | NP_001269606.1:p.Asp172= | |
| NM_001282678.1:c.-109C>T | NP_001269607.1:n.-109C>T | |
| XR_242246.3:n.612C>T | ||
| XR_242246.5:n.563C>T | ||
| NM_000466.3:c.516C>T MANE Select | NP_000457.1:p.Asp172= | |
| NM_001282677.2:c.516C>T | NP_001269606.1:p.Asp172= | |
| NM_001282678.2:c.-109C>T | NP_001269607.1:n.-109C>T |