Linked Data
ClinVar Variation Id:
1577132
ClinVar RCV Id:
RCV002087828
dbSNP Id:
rs1450264968
gnomAD v2:
10-104596963-G-A
gnomAD v4:
10-102837206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837206G>A , CM000672.2:g.102837206G>A | GRCh38 |
| NC_000010.10:g.104596963G>A , CM000672.1:g.104596963G>A | GRCh37 |
| NC_000010.9:g.104586953G>A | NCBI36 |
| NG_007955.1:g.5328C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.156C>T MANE Select | ENSP00000358903.3:p.Asn52= | |
| ENST00000638190.1:c.156C>T | ENSP00000492539.1:p.Asn52= | |
| ENST00000638272.1:c.156C>T | ENSP00000491508.1:p.Asn52= | |
| ENST00000638971.1:c.156C>T | ENSP00000492313.1:p.Asn52= | |
| ENST00000639393.1:c.156C>T | ENSP00000492651.1:p.Asn52= | |
| ENST00000369887.3:c.156C>T | ENSP00000358903.3:p.Asn52= | |
| ENST00000489268.1:n.209C>T | ||
| NM_000102.3:c.156C>T | NP_000093.1:p.Asn52= | |
| NM_000102.4:c.156C>T MANE Select | NP_000093.1:p.Asn52= |