Linked Data
ClinVar Variation Id:
2683617
ClinVar RCV Id:
RCV003480437
dbSNP Id:
rs1792861698
gnomAD v3:
7-92517686-G-A
gnomAD v4:
7-92517686-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517686G>A , CM000669.2:g.92517686G>A | GRCh38 |
| NC_000007.13:g.92147000G>A , CM000669.1:g.92147000G>A | GRCh37 |
| NC_000007.12:g.91984936G>A | NCBI36 |
| NG_008341.1:g.15846C>T | |
| NG_008341.2:g.15846C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.829C>T MANE Select | ENSP00000248633.4:p.Gln277Ter | |
| ENST00000248633.8:c.829C>T | ENSP00000248633.4:p.Gln277Ter | |
| ENST00000428214.5:c.829C>T | ENSP00000394413.1:p.Gln277Ter | |
| ENST00000438045.5:c.274-3719C>T | ENSP00000410438.1:n.274-3719C>T | |
| ENST00000484913.5:n.868C>T | ||
| NM_000466.2:c.829C>T | NP_000457.1:p.Gln277Ter | |
| NM_001282677.1:c.829C>T | NP_001269606.1:p.Gln277Ter | |
| NM_001282678.1:c.205C>T | NP_001269607.1:p.Gln69Ter | |
| XR_242246.3:n.925C>T | ||
| XR_242246.5:n.876C>T | ||
| NM_000466.3:c.829C>T MANE Select | NP_000457.1:p.Gln277Ter | |
| NM_001282677.2:c.829C>T | NP_001269606.1:p.Gln277Ter | |
| NM_001282678.2:c.205C>T | NP_001269607.1:p.Gln69Ter |