Linked Data
ClinVar Variation Id:
2971972
ClinVar RCV Id:
RCV003833034
dbSNP Id:
rs749777784
ExAC:
2:71351316 C / A
gnomAD v2:
2-71351316-C-A
gnomAD v4:
2-71124186-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124186C>A , CM000664.2:g.71124186C>A | GRCh38 |
| NC_000002.11:g.71351316C>A , CM000664.1:g.71351316C>A | GRCh37 |
| NC_000002.10:g.71204824C>A | NCBI36 |
| NG_008977.1:g.11079G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.378+20G>T MANE Select | ENSP00000244217.5:n.378+20G>T | |
| ENST00000244217.5:c.378+20G>T | ENSP00000244217.5:n.378+20G>T | |
| ENST00000413592.5:c.84+182G>T | ENSP00000391140.1:n.84+182G>T | |
| NM_032601.3:c.378+20G>T | NP_115990.3:n.378+20G>T | |
| XM_005264613.2:c.216+182G>T | XP_005264670.1:n.216+182G>T | |
| XR_939729.1:n.447+20G>T | ||
| XR_939729.2:n.447+20G>T | ||
| NM_032601.4:c.378+20G>T MANE Select | NP_115990.3:n.378+20G>T |