Linked Data
dbSNP Id:
rs776609433
ExAC:
19:6697659 C / A
gnomAD v2:
19-6697659-C-A
gnomAD v3:
19-6697648-C-A
gnomAD v4:
19-6697648-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697648C>A , CM000681.2:g.6697648C>A | GRCh38 |
| NC_000019.9:g.6697659C>A , CM000681.1:g.6697659C>A | GRCh37 |
| NC_000019.8:g.6648659C>A | NCBI36 |
| NG_009557.1:g.28004G>T , LRG_27:g.28004G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.931+4G>T | ||
| ENST00000695652.1:c.2460+4G>T | ENSP00000512083.1:n.2460+4G>T | |
| ENST00000695653.1:c.492+4G>T | ENSP00000512084.1:n.492+4G>T | |
| ENST00000695654.1:c.1707+4G>T | ENSP00000512085.1:n.1707+4G>T | |
| ENST00000695655.1:c.1524+4G>T | ENSP00000512086.1:n.1524+4G>T | |
| ENST00000695692.1:n.1947+4G>T | ||
| ENST00000245907.11:c.2583+4G>T MANE Select | ENSP00000245907.4:n.2583+4G>T | |
| ENST00000245907.10:c.2583+4G>T | ENSP00000245907.4:n.2583+4G>T | |
| ENST00000594005.1:n.68G>T | ||
| NM_000064.3:c.2583+4G>T | NP_000055.2:n.2583+4G>T | |
| NM_000064.4:c.2583+4G>T MANE Select | NP_000055.2:n.2583+4G>T |