Linked Data
ClinVar Variation Id:
1597239
ClinVar RCV Id:
RCV002127148
dbSNP Id:
rs368714078
gnomAD v2:
7-92147474-C-G
gnomAD v3:
7-92518160-C-G
gnomAD v4:
7-92518160-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518160C>G , CM000669.2:g.92518160C>G | GRCh38 |
| NC_000007.13:g.92147474C>G , CM000669.1:g.92147474C>G | GRCh37 |
| NC_000007.12:g.91985410C>G | NCBI36 |
| NG_008341.1:g.15372G>C | |
| NG_008341.2:g.15372G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.453G>C MANE Select | ENSP00000248633.4:p.Thr151= | |
| ENST00000248633.8:c.453G>C | ENSP00000248633.4:p.Thr151= | |
| ENST00000428214.5:c.453G>C | ENSP00000394413.1:p.Thr151= | |
| ENST00000438045.5:c.273+3942G>C | ENSP00000410438.1:n.273+3942G>C | |
| ENST00000484913.5:n.492G>C | ||
| NM_000466.2:c.453G>C | NP_000457.1:p.Thr151= | |
| NM_001282677.1:c.453G>C | NP_001269606.1:p.Thr151= | |
| NM_001282678.1:c.-172G>C | NP_001269607.1:n.-172G>C | |
| XR_242246.3:n.549G>C | ||
| XR_242246.5:n.500G>C | ||
| NM_000466.3:c.453G>C MANE Select | NP_000457.1:p.Thr151= | |
| NM_001282677.2:c.453G>C | NP_001269606.1:p.Thr151= | |
| NM_001282678.2:c.-172G>C | NP_001269607.1:n.-172G>C |