Linked Data
ClinVar Variation Id:
1928526
ClinVar RCV Id:
RCV002635012
dbSNP Id:
rs910835204
gnomAD v3:
11-72196046-G-A
gnomAD v4:
11-72196046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72196046G>A , CM000673.2:g.72196046G>A | GRCh38 |
| NC_000011.9:g.71907090G>A , CM000673.1:g.71907090G>A | GRCh37 |
| NC_000011.8:g.71584738G>A | NCBI36 |
| NG_015863.1:g.11489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.643G>A | ENSP00000308137.4:p.Asp215Asn | |
| ENST00000393676.5:c.643G>A MANE Select | ENSP00000377281.3:p.Asp215Asn | |
| ENST00000675784.1:c.643G>A | ENSP00000502440.1:p.Asp215Asn | |
| ENST00000312293.8:c.643G>A | ENSP00000308137.4:p.Asp215Asn | |
| ENST00000393676.3:c.643G>A | ENSP00000377281.3:p.Asp215Asn | |
| ENST00000393679.5:c.643G>A | ENSP00000377284.1:p.Asp215Asn | |
| ENST00000393681.6:c.643G>A | ENSP00000377286.2:p.Asp215Asn | |
| NM_000802.3:c.643G>A | NP_000793.1:p.Asp215Asn | |
| NM_016724.2:c.643G>A | NP_057936.1:p.Asp215Asn | |
| NM_016725.2:c.643G>A | NP_057937.1:p.Asp215Asn | |
| NM_016729.2:c.643G>A | NP_057941.1:p.Asp215Asn | |
| NM_016729.3:c.643G>A MANE Select | NP_057941.1:p.Asp215Asn | |
| NM_016724.3:c.643G>A | NP_057936.1:p.Asp215Asn | |
| NM_016725.3:c.643G>A | NP_057937.1:p.Asp215Asn |