Linked Data
ClinVar Variation Id:
1068299
ClinVar RCV Id:
RCV001379809
dbSNP Id:
rs2135840980
gnomAD v4:
11-64758705-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758705C>T , CM000673.2:g.64758705C>T | GRCh38 |
| NC_000011.9:g.64526177C>T , CM000673.1:g.64526177C>T | GRCh37 |
| NC_000011.8:g.64282753C>T | NCBI36 |
| NG_013018.1:g.7011G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.244-1G>A MANE Select | ENSP00000164139.3:n.244-1G>A | |
| ENST00000164139.3:c.244-1G>A | ENSP00000164139.3:n.244-1G>A | |
| ENST00000377432.7:c.244-439G>A | ENSP00000366650.3:n.244-439G>A | |
| NM_001164716.1:c.244-439G>A | NP_001158188.1:n.244-439G>A | |
| NM_005609.2:c.244-1G>A | NP_005600.1:n.244-1G>A | |
| NM_005609.3:c.244-1G>A | NP_005600.1:n.244-1G>A | |
| NM_005609.4:c.244-1G>A MANE Select | NP_005600.1:n.244-1G>A |