Linked Data
ClinVar Variation Id:
1484694
ClinVar RCV Id:
RCV002038131
dbSNP Id:
rs772034590
ExAC:
19:6681984 C / T
gnomAD v2:
19-6681984-C-T
gnomAD v4:
19-6681973-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681973C>T , CM000681.2:g.6681973C>T | GRCh38 |
| NC_000019.9:g.6681984C>T , CM000681.1:g.6681984C>T | GRCh37 |
| NC_000019.8:g.6632984C>T | NCBI36 |
| NG_009557.1:g.43679G>A , LRG_27:g.43679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2666G>A | ||
| ENST00000695653.1:c.2227G>A | ENSP00000512084.1:p.Asp743Asn | |
| ENST00000695654.1:c.3343G>A | ENSP00000512085.1:p.Asp1115Asn | |
| ENST00000695689.1:c.289G>A | ENSP00000512101.1:n.289G>A | |
| ENST00000695690.1:n.509G>A | ||
| ENST00000695691.1:n.509G>A | ||
| ENST00000245907.11:c.4318G>A MANE Select | ENSP00000245907.4:p.Asp1440Asn | |
| ENST00000245907.10:c.4318G>A | ENSP00000245907.4:p.Asp1440Asn | |
| ENST00000596548.1:c.439G>A | ENSP00000469744.1:p.Asp147Asn | |
| ENST00000599899.5:n.1277G>A | ||
| ENST00000601008.1:c.242-4015G>A | ENSP00000471384.1:n.242-4015G>A | |
| NM_000064.3:c.4318G>A | NP_000055.2:p.Asp1440Asn | |
| NM_000064.4:c.4318G>A MANE Select | NP_000055.2:p.Asp1440Asn |