Linked Data
ClinVar Variation Id:
598466
dbSNP Id:
rs372455445
gnomAD v2:
7-92147354-C-A
gnomAD v3:
7-92518040-C-A
gnomAD v4:
7-92518040-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518040C>A , CM000669.2:g.92518040C>A | GRCh38 |
| NC_000007.13:g.92147354C>A , CM000669.1:g.92147354C>A | GRCh37 |
| NC_000007.12:g.91985290C>A | NCBI36 |
| NG_008341.1:g.15492G>T | |
| NG_008341.2:g.15492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.475G>T MANE Select | ENSP00000248633.4:p.Ala159Ser | |
| ENST00000248633.8:c.475G>T | ENSP00000248633.4:p.Ala159Ser | |
| ENST00000428214.5:c.475G>T | ENSP00000394413.1:p.Ala159Ser | |
| ENST00000438045.5:c.273+4062G>T | ENSP00000410438.1:n.273+4062G>T | |
| ENST00000484913.5:n.514G>T | ||
| NM_000466.2:c.475G>T | NP_000457.1:p.Ala159Ser | |
| NM_001282677.1:c.475G>T | NP_001269606.1:p.Ala159Ser | |
| NM_001282678.1:c.-150G>T | NP_001269607.1:n.-150G>T | |
| XR_242246.3:n.571G>T | ||
| XR_242246.5:n.522G>T | ||
| NM_000466.3:c.475G>T MANE Select | NP_000457.1:p.Ala159Ser | |
| NM_001282677.2:c.475G>T | NP_001269606.1:p.Ala159Ser | |
| NM_001282678.2:c.-150G>T | NP_001269607.1:n.-150G>T |