Linked Data
ClinVar Variation Id:
1985960
ClinVar RCV Id:
RCV002805383
dbSNP Id:
rs1015693996
gnomAD v2:
1-115220525-C-A
gnomAD v4:
1-114677904-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677904C>A , CM000663.2:g.114677904C>A | GRCh38 |
| NC_000001.10:g.115220525C>A , CM000663.1:g.115220525C>A | GRCh37 |
| NC_000001.9:g.115022048C>A | NCBI36 |
| NG_008012.1:g.22652G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+6G>T | ENSP00000358551.4:n.1212+6G>T | |
| ENST00000520113.7:c.1224+6G>T MANE Select | ENSP00000430075.3:n.1224+6G>T | |
| ENST00000637080.1:c.1007+6G>T | ENSP00000489753.1:n.1007+6G>T | |
| ENST00000639077.1:n.889+6G>T | ||
| ENST00000369538.3:c.1311+6G>T | ENSP00000358551.3:n.1311+6G>T | |
| ENST00000520113.6:c.1323+6G>T | ENSP00000430075.2:n.1323+6G>T | |
| NM_000036.2:c.1323+6G>T | NP_000027.2:n.1323+6G>T | |
| NM_001172626.1:c.1311+6G>T | NP_001166097.1:n.1311+6G>T | |
| NM_000036.3:c.1224+6G>T MANE Select | NP_000027.3:n.1224+6G>T | |
| NM_001172626.2:c.1212+6G>T | NP_001166097.2:n.1212+6G>T |