Linked Data
ClinVar Variation Id:
1226583
ClinVar RCV Id:
RCV001615848
dbSNP Id:
rs3745567
ExAC:
19:6690771 C / T
gnomAD v2:
19-6690771-C-T
gnomAD v3:
19-6690760-C-T
gnomAD v4:
19-6690760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6690760C>T , CM000681.2:g.6690760C>T | GRCh38 |
| NC_000019.9:g.6690771C>T , CM000681.1:g.6690771C>T | GRCh37 |
| NC_000019.8:g.6641771C>T | NCBI36 |
| NG_009557.1:g.34892G>A , LRG_27:g.34892G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.1739-33G>A | ||
| ENST00000695652.1:c.3268-33G>A | ENSP00000512083.1:n.3268-33G>A | |
| ENST00000695653.1:c.1300-33G>A | ENSP00000512084.1:n.1300-33G>A | |
| ENST00000695654.1:c.2514+2164G>A | ENSP00000512085.1:n.2514+2164G>A | |
| ENST00000695655.1:c.2332-33G>A | ENSP00000512086.1:n.2332-33G>A | |
| ENST00000695692.1:n.2755-33G>A | ||
| ENST00000245907.11:c.3391-33G>A MANE Select | ENSP00000245907.4:n.3391-33G>A | |
| ENST00000245907.10:c.3391-33G>A | ENSP00000245907.4:n.3391-33G>A | |
| ENST00000598805.2:n.161-33G>A | ||
| NM_000064.3:c.3391-33G>A | NP_000055.2:n.3391-33G>A | |
| NM_000064.4:c.3391-33G>A MANE Select | NP_000055.2:n.3391-33G>A |