Linked Data
ClinVar Variation Id:
360930
ClinVar RCV Id:
RCV001277061
dbSNP Id:
rs886062506
gnomAD v3:
7-92517685-T-C
gnomAD v4:
7-92517685-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517685T>C , CM000669.2:g.92517685T>C | GRCh38 |
| NC_000007.13:g.92146999T>C , CM000669.1:g.92146999T>C | GRCh37 |
| NC_000007.12:g.91984935T>C | NCBI36 |
| NG_008341.1:g.15847A>G | |
| NG_008341.2:g.15847A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.830A>G MANE Select | ENSP00000248633.4:p.Gln277Arg | |
| ENST00000248633.8:c.830A>G | ENSP00000248633.4:p.Gln277Arg | |
| ENST00000428214.5:c.830A>G | ENSP00000394413.1:p.Gln277Arg | |
| ENST00000438045.5:c.274-3718A>G | ENSP00000410438.1:n.274-3718A>G | |
| ENST00000484913.5:n.869A>G | ||
| NM_000466.2:c.830A>G | NP_000457.1:p.Gln277Arg | |
| NM_001282677.1:c.830A>G | NP_001269606.1:p.Gln277Arg | |
| NM_001282678.1:c.206A>G | NP_001269607.1:p.Gln69Arg | |
| XR_242246.3:n.926A>G | ||
| XR_242246.5:n.877A>G | ||
| NM_000466.3:c.830A>G MANE Select | NP_000457.1:p.Gln277Arg | |
| NM_001282677.2:c.830A>G | NP_001269606.1:p.Gln277Arg | |
| NM_001282678.2:c.206A>G | NP_001269607.1:p.Gln69Arg |