Linked Data
ClinVar Variation Id:
2188352
ClinVar RCV Id:
RCV002620164
dbSNP Id:
rs750409422
ExAC:
7:92140283 T / C
gnomAD v2:
7-92140283-T-C
gnomAD v3:
7-92510969-T-C
gnomAD v4:
7-92510969-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92510969T>C , CM000669.2:g.92510969T>C | GRCh38 |
| NC_000007.13:g.92140283T>C , CM000669.1:g.92140283T>C | GRCh37 |
| NC_000007.12:g.91978219T>C | NCBI36 |
| NG_008341.1:g.22563A>G | |
| NG_008341.2:g.22563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1562A>G MANE Select | ENSP00000248633.4:p.Asn521Ser | |
| ENST00000248633.8:c.1562A>G | ENSP00000248633.4:p.Asn521Ser | |
| ENST00000422866.1:c.463A>G | ||
| ENST00000428214.5:c.1562A>G | ENSP00000394413.1:p.Asn521Ser | |
| ENST00000438045.5:c.596A>G | ENSP00000410438.1:p.Asn199Ser | |
| ENST00000476923.1:n.323A>G | ||
| ENST00000484913.5:n.1601A>G | ||
| NM_000466.2:c.1562A>G | NP_000457.1:p.Asn521Ser | |
| NM_001282677.1:c.1562A>G | NP_001269606.1:p.Asn521Ser | |
| NM_001282678.1:c.938A>G | NP_001269607.1:p.Asn313Ser | |
| XM_005250433.3:c.-105A>G | XP_005250490.1:n.-105A>G | |
| XR_242246.3:n.1658A>G | ||
| XM_017012319.2:c.-105A>G | XP_016867808.1:n.-105A>G | |
| XR_001744808.2:n.672A>G | ||
| XR_242246.5:n.1609A>G | ||
| NM_000466.3:c.1562A>G MANE Select | NP_000457.1:p.Asn521Ser | |
| NM_001282677.2:c.1562A>G | NP_001269606.1:p.Asn521Ser | |
| NM_001282678.2:c.938A>G | NP_001269607.1:p.Asn313Ser |