Linked Data
ClinVar Variation Id:
2181231
ClinVar RCV Id:
RCV002606039
dbSNP Id:
rs745421141
gnomAD v3:
7-92517664-T-C
gnomAD v4:
7-92517664-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517664T>C , CM000669.2:g.92517664T>C | GRCh38 |
| NC_000007.13:g.92146978T>C , CM000669.1:g.92146978T>C | GRCh37 |
| NC_000007.12:g.91984914T>C | NCBI36 |
| NG_008341.1:g.15868A>G | |
| NG_008341.2:g.15868A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.851A>G MANE Select | ENSP00000248633.4:p.Asp284Gly | |
| ENST00000248633.8:c.851A>G | ENSP00000248633.4:p.Asp284Gly | |
| ENST00000428214.5:c.851A>G | ENSP00000394413.1:p.Asp284Gly | |
| ENST00000438045.5:c.274-3697A>G | ENSP00000410438.1:n.274-3697A>G | |
| ENST00000484913.5:n.890A>G | ||
| NM_000466.2:c.851A>G | NP_000457.1:p.Asp284Gly | |
| NM_001282677.1:c.851A>G | NP_001269606.1:p.Asp284Gly | |
| NM_001282678.1:c.227A>G | NP_001269607.1:p.Asp76Gly | |
| XR_242246.3:n.947A>G | ||
| XR_242246.5:n.898A>G | ||
| NM_000466.3:c.851A>G MANE Select | NP_000457.1:p.Asp284Gly | |
| NM_001282677.2:c.851A>G | NP_001269606.1:p.Asp284Gly | |
| NM_001282678.2:c.227A>G | NP_001269607.1:p.Asp76Gly |