Linked Data
ClinVar Variation Id:
1564000
ClinVar RCV Id:
RCV002209660
dbSNP Id:
rs765656918
ExAC:
1:7997785 G / A
gnomAD v2:
1-7997785-G-A
gnomAD v3:
1-7937725-G-A
gnomAD v4:
1-7937725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7937725G>A , CM000663.2:g.7937725G>A | GRCh38 |
| NC_000001.10:g.7997785G>A , CM000663.1:g.7997785G>A | GRCh37 |
| NC_000001.9:g.7920372G>A | NCBI36 |
| NG_052834.1:g.10441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377507.8:c.378C>T MANE Select | ENSP00000366729.3:p.Asn126= | |
| ENST00000377507.7:c.378C>T | ENSP00000366729.3:p.Asn126= | |
| ENST00000492571.1:c.144C>T | ENSP00000464978.1:p.Asn48= | |
| ENST00000615230.4:c.378C>T | ENSP00000478699.1:p.Asn126= | |
| NM_001561.5:c.378C>T | NP_001552.2:p.Asn126= | |
| XM_006710618.2:c.378C>T | XP_006710681.1:p.Asn126= | |
| XM_011541386.1:c.378C>T | XP_011539688.1:p.Asn126= | |
| XM_006710618.3:c.378C>T | XP_006710681.1:p.Asn126= | |
| XM_011541386.2:c.378C>T | XP_011539688.1:p.Asn126= | |
| NM_001561.6:c.378C>T MANE Select | NP_001552.2:p.Asn126= |