Linked Data
ClinVar Variation Id:
1965661
ClinVar RCV Id:
RCV002711265
dbSNP Id:
rs778784905
ExAC:
7:92151548 T / G
gnomAD v3:
7-92522234-T-G
gnomAD v4:
7-92522234-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92522234T>G , CM000669.2:g.92522234T>G | GRCh38 |
| NC_000007.13:g.92151548T>G , CM000669.1:g.92151548T>G | GRCh37 |
| NC_000007.12:g.91989484T>G | NCBI36 |
| NG_008341.1:g.11298A>C | |
| NG_008341.2:g.11298A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.141A>C MANE Select | ENSP00000248633.4:p.Ile47= | |
| ENST00000248633.8:c.141A>C | ENSP00000248633.4:p.Ile47= | |
| ENST00000428214.5:c.141A>C | ENSP00000394413.1:p.Ile47= | |
| ENST00000438045.5:c.141A>C | ENSP00000410438.1:p.Ile47= | |
| ENST00000484913.5:n.145A>C | ||
| NM_000466.2:c.141A>C | NP_000457.1:p.Ile47= | |
| NM_001282677.1:c.141A>C | NP_001269606.1:p.Ile47= | |
| NM_001282678.1:c.-519A>C | NP_001269607.1:n.-519A>C | |
| XR_242246.3:n.237A>C | ||
| XR_242246.5:n.188A>C | ||
| NM_000466.3:c.141A>C MANE Select | NP_000457.1:p.Ile47= | |
| NM_001282677.2:c.141A>C | NP_001269606.1:p.Ile47= | |
| NM_001282678.2:c.-519A>C | NP_001269607.1:n.-519A>C |