Linked Data
ClinVar Variation Id:
2269425
ClinVar RCV Id:
RCV002799309
dbSNP Id:
rs765240855
ExAC:
7:92147320 T / A
gnomAD v2:
7-92147320-T-A
gnomAD v3:
7-92518006-T-A
gnomAD v4:
7-92518006-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518006T>A , CM000669.2:g.92518006T>A | GRCh38 |
| NC_000007.13:g.92147320T>A , CM000669.1:g.92147320T>A | GRCh37 |
| NC_000007.12:g.91985256T>A | NCBI36 |
| NG_008341.1:g.15526A>T | |
| NG_008341.2:g.15526A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.509A>T MANE Select | ENSP00000248633.4:p.Glu170Val | |
| ENST00000248633.8:c.509A>T | ENSP00000248633.4:p.Glu170Val | |
| ENST00000428214.5:c.509A>T | ENSP00000394413.1:p.Glu170Val | |
| ENST00000438045.5:c.274-4039A>T | ENSP00000410438.1:n.274-4039A>T | |
| ENST00000484913.5:n.548A>T | ||
| NM_000466.2:c.509A>T | NP_000457.1:p.Glu170Val | |
| NM_001282677.1:c.509A>T | NP_001269606.1:p.Glu170Val | |
| NM_001282678.1:c.-116A>T | NP_001269607.1:n.-116A>T | |
| XR_242246.3:n.605A>T | ||
| XR_242246.5:n.556A>T | ||
| NM_000466.3:c.509A>T MANE Select | NP_000457.1:p.Glu170Val | |
| NM_001282677.2:c.509A>T | NP_001269606.1:p.Glu170Val | |
| NM_001282678.2:c.-116A>T | NP_001269607.1:n.-116A>T |