Linked Data
ClinVar Variation Id:
300071
dbSNP Id:
rs375617750
ExAC:
10:50684360 C / T
gnomAD v2:
10-50684360-C-T
gnomAD v3:
10-49476314-C-T
gnomAD v4:
10-49476314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49476314C>T , CM000672.2:g.49476314C>T | GRCh38 |
| NC_000010.10:g.50684360C>T , CM000672.1:g.50684360C>T | GRCh37 |
| NC_000010.9:g.50354366C>T | NCBI36 |
| NG_009442.1:g.67788G>A , LRG_465:g.67788G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2287-4G>A MANE Select | ENSP00000348089.5:n.2287-4G>A | |
| ENST00000681632.1:n.2365-4G>A | ||
| ENST00000681659.1:c.2128-4G>A | ENSP00000505631.1:n.2128-4G>A | |
| ENST00000355832.9:c.2287-4G>A | ENSP00000348089.5:n.2287-4G>A | |
| ENST00000623073.3:c.*678+2040G>A | ENSP00000485650.1:n.*678+2040G>A | |
| ENST00000623115.3:c.397-4G>A | ENSP00000485321.1:n.397-4G>A | |
| NM_000124.3:c.2287-4G>A | NP_000115.1:n.2287-4G>A | |
| NM_001346440.1:c.2287-4G>A | NP_001333369.1:n.2287-4G>A | |
| NM_000124.4:c.2287-4G>A MANE Select | NP_000115.1:n.2287-4G>A | |
| NM_001346440.2:c.2287-4G>A | NP_001333369.1:n.2287-4G>A |