Linked Data
ClinVar Variation Id:
1499093
ClinVar RCV Id:
RCV001999467
dbSNP Id:
rs781103940
ExAC:
7:92146975 T / C
gnomAD v2:
7-92146975-T-C
gnomAD v3:
7-92517661-T-C
gnomAD v4:
7-92517661-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517661T>C , CM000669.2:g.92517661T>C | GRCh38 |
| NC_000007.13:g.92146975T>C , CM000669.1:g.92146975T>C | GRCh37 |
| NC_000007.12:g.91984911T>C | NCBI36 |
| NG_008341.1:g.15871A>G | |
| NG_008341.2:g.15871A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.854A>G MANE Select | ENSP00000248633.4:p.Asn285Ser | |
| ENST00000248633.8:c.854A>G | ENSP00000248633.4:p.Asn285Ser | |
| ENST00000428214.5:c.854A>G | ENSP00000394413.1:p.Asn285Ser | |
| ENST00000438045.5:c.274-3694A>G | ENSP00000410438.1:n.274-3694A>G | |
| ENST00000484913.5:n.893A>G | ||
| NM_000466.2:c.854A>G | NP_000457.1:p.Asn285Ser | |
| NM_001282677.1:c.854A>G | NP_001269606.1:p.Asn285Ser | |
| NM_001282678.1:c.230A>G | NP_001269607.1:p.Asn77Ser | |
| XR_242246.3:n.950A>G | ||
| XR_242246.5:n.901A>G | ||
| NM_000466.3:c.854A>G MANE Select | NP_000457.1:p.Asn285Ser | |
| NM_001282677.2:c.854A>G | NP_001269606.1:p.Asn285Ser | |
| NM_001282678.2:c.230A>G | NP_001269607.1:p.Asn77Ser |