Linked Data
ClinVar Variation Id:
1569079
ClinVar RCV Id:
RCV002218829
dbSNP Id:
rs1364934761
gnomAD v2:
19-6697814-G-A
gnomAD v4:
19-6697803-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697803G>A , CM000681.2:g.6697803G>A | GRCh38 |
| NC_000019.9:g.6697814G>A , CM000681.1:g.6697814G>A | GRCh37 |
| NC_000019.8:g.6648814G>A | NCBI36 |
| NG_009557.1:g.27849C>T , LRG_27:g.27849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.789-9C>T | ||
| ENST00000695652.1:c.2318-9C>T | ENSP00000512083.1:n.2318-9C>T | |
| ENST00000695653.1:c.350-9C>T | ENSP00000512084.1:n.350-9C>T | |
| ENST00000695654.1:c.1565-9C>T | ENSP00000512085.1:n.1565-9C>T | |
| ENST00000695655.1:c.1382-9C>T | ENSP00000512086.1:n.1382-9C>T | |
| ENST00000695692.1:n.1805-9C>T | ||
| ENST00000245907.11:c.2441-9C>T MANE Select | ENSP00000245907.4:n.2441-9C>T | |
| ENST00000245907.10:c.2441-9C>T | ENSP00000245907.4:n.2441-9C>T | |
| ENST00000602053.1:n.489-9C>T | ||
| NM_000064.3:c.2441-9C>T | NP_000055.2:n.2441-9C>T | |
| NM_000064.4:c.2441-9C>T MANE Select | NP_000055.2:n.2441-9C>T |