Linked Data
ClinVar Variation Id:
2149282
ClinVar RCV Id:
RCV003065402
dbSNP Id:
rs776060595
ExAC:
11:64517828 G / A
gnomAD v2:
11-64517828-G-A
gnomAD v3:
11-64750356-G-A
gnomAD v4:
11-64750356-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64750356G>A , CM000673.2:g.64750356G>A | GRCh38 |
| NC_000011.9:g.64517828G>A , CM000673.1:g.64517828G>A | GRCh37 |
| NC_000011.8:g.64274404G>A | NCBI36 |
| NG_007574.1:g.101C>T , LRG_100:g.101C>T | |
| NG_013018.1:g.15360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2177+20C>T MANE Select | ENSP00000164139.3:n.2177+20C>T | |
| ENST00000164139.3:c.2177+20C>T | ENSP00000164139.3:n.2177+20C>T | |
| ENST00000377432.7:c.1913+20C>T | ENSP00000366650.3:n.1913+20C>T | |
| NM_001164716.1:c.1913+20C>T | NP_001158188.1:n.1913+20C>T | |
| NM_005609.2:c.2177+20C>T | NP_005600.1:n.2177+20C>T | |
| NM_005609.3:c.2177+20C>T | NP_005600.1:n.2177+20C>T | |
| NM_005609.4:c.2177+20C>T MANE Select | NP_005600.1:n.2177+20C>T |