Linked Data
ClinVar Variation Id:
2008850
ClinVar RCV Id:
RCV002816698
dbSNP Id:
rs1850757369
gnomAD v3:
10-49470518-C-T
gnomAD v4:
10-49470518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470518C>T , CM000672.2:g.49470518C>T | GRCh38 |
| NC_000010.10:g.50678564C>T , CM000672.1:g.50678564C>T | GRCh37 |
| NC_000010.9:g.50348570C>T | NCBI36 |
| NG_009442.1:g.73584G>A , LRG_465:g.73584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3442G>A MANE Select | ENSP00000348089.5:p.Asp1148Asn | |
| ENST00000679552.1:n.513G>A | ||
| ENST00000679871.1:n.588G>A | ||
| ENST00000679974.1:n.491G>A | ||
| ENST00000681632.1:n.4845G>A | ||
| ENST00000681659.1:c.3283G>A | ENSP00000505631.1:p.Asp1095Asn | |
| ENST00000355832.9:c.3442G>A | ENSP00000348089.5:p.Asp1148Asn | |
| ENST00000623073.3:c.*1738G>A | ENSP00000485650.1:n.*1738G>A | |
| ENST00000623115.3:c.1552G>A | ENSP00000485321.1:p.Asp518Asn | |
| ENST00000624341.3:c.1274G>A | ||
| NM_000124.3:c.3442G>A | NP_000115.1:p.Asp1148Asn | |
| XR_945953.1:n.243-1047C>T | ||
| NM_001346440.1:c.3442G>A | NP_001333369.1:p.Asp1148Asn | |
| NM_000124.4:c.3442G>A MANE Select | NP_000115.1:p.Asp1148Asn | |
| NM_001346440.2:c.3442G>A | NP_001333369.1:p.Asp1148Asn |