Linked Data
ClinVar Variation Id:
1538133
ClinVar RCV Id:
RCV002092856
dbSNP Id:
rs759628709
ExAC:
7:92147352 T / G
gnomAD v2:
7-92147352-T-G
gnomAD v4:
7-92518038-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518038T>G , CM000669.2:g.92518038T>G | GRCh38 |
| NC_000007.13:g.92147352T>G , CM000669.1:g.92147352T>G | GRCh37 |
| NC_000007.12:g.91985288T>G | NCBI36 |
| NG_008341.1:g.15494A>C | |
| NG_008341.2:g.15494A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.477A>C MANE Select | ENSP00000248633.4:p.Ala159= | |
| ENST00000248633.8:c.477A>C | ENSP00000248633.4:p.Ala159= | |
| ENST00000428214.5:c.477A>C | ENSP00000394413.1:p.Ala159= | |
| ENST00000438045.5:c.273+4064A>C | ENSP00000410438.1:n.273+4064A>C | |
| ENST00000484913.5:n.516A>C | ||
| NM_000466.2:c.477A>C | NP_000457.1:p.Ala159= | |
| NM_001282677.1:c.477A>C | NP_001269606.1:p.Ala159= | |
| NM_001282678.1:c.-148A>C | NP_001269607.1:n.-148A>C | |
| XR_242246.3:n.573A>C | ||
| XR_242246.5:n.524A>C | ||
| NM_000466.3:c.477A>C MANE Select | NP_000457.1:p.Ala159= | |
| NM_001282677.2:c.477A>C | NP_001269606.1:p.Ala159= | |
| NM_001282678.2:c.-148A>C | NP_001269607.1:n.-148A>C |