Linked Data
dbSNP Id:
rs766179097
ExAC:
19:6697752 C / T
gnomAD v2:
19-6697752-C-T
gnomAD v3:
19-6697741-C-T
gnomAD v4:
19-6697741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697741C>T , CM000681.2:g.6697741C>T | GRCh38 |
| NC_000019.9:g.6697752C>T , CM000681.1:g.6697752C>T | GRCh37 |
| NC_000019.8:g.6648752C>T | NCBI36 |
| NG_009557.1:g.27911G>A , LRG_27:g.27911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.842G>A | ||
| ENST00000695652.1:c.2371G>A | ENSP00000512083.1:p.Asp791Asn | |
| ENST00000695653.1:c.403G>A | ENSP00000512084.1:p.Asp135Asn | |
| ENST00000695654.1:c.1618G>A | ENSP00000512085.1:p.Asp540Asn | |
| ENST00000695655.1:c.1435G>A | ENSP00000512086.1:n.1435G>A | |
| ENST00000695692.1:n.1858G>A | ||
| ENST00000245907.11:c.2494G>A MANE Select | ENSP00000245907.4:p.Asp832Asn | |
| ENST00000245907.10:c.2494G>A | ENSP00000245907.4:p.Asp832Asn | |
| ENST00000602053.1:n.542G>A | ||
| NM_000064.3:c.2494G>A | NP_000055.2:p.Asp832Asn | |
| NM_000064.4:c.2494G>A MANE Select | NP_000055.2:p.Asp832Asn |