Linked Data
ClinVar Variation Id:
1591971
ClinVar RCV Id:
RCV002096460
dbSNP Id:
rs200657972
ExAC:
19:6697653 C / T
gnomAD v2:
19-6697653-C-T
gnomAD v3:
19-6697642-C-T
gnomAD v4:
19-6697642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697642C>T , CM000681.2:g.6697642C>T | GRCh38 |
| NC_000019.9:g.6697653C>T , CM000681.1:g.6697653C>T | GRCh37 |
| NC_000019.8:g.6648653C>T | NCBI36 |
| NG_009557.1:g.28010G>A , LRG_27:g.28010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.931+10G>A | ||
| ENST00000695652.1:c.2460+10G>A | ENSP00000512083.1:n.2460+10G>A | |
| ENST00000695653.1:c.492+10G>A | ENSP00000512084.1:n.492+10G>A | |
| ENST00000695654.1:c.1707+10G>A | ENSP00000512085.1:n.1707+10G>A | |
| ENST00000695655.1:c.1524+10G>A | ENSP00000512086.1:n.1524+10G>A | |
| ENST00000695692.1:n.1947+10G>A | ||
| ENST00000245907.11:c.2583+10G>A MANE Select | ENSP00000245907.4:n.2583+10G>A | |
| ENST00000245907.10:c.2583+10G>A | ENSP00000245907.4:n.2583+10G>A | |
| ENST00000594005.1:n.74G>A | ||
| NM_000064.3:c.2583+10G>A | NP_000055.2:n.2583+10G>A | |
| NM_000064.4:c.2583+10G>A MANE Select | NP_000055.2:n.2583+10G>A |