Linked Data
ClinVar Variation Id:
190147
dbSNP Id:
rs371739894
ExAC:
10:50713929 C / A
gnomAD v2:
10-50713929-C-A
gnomAD v3:
10-49505883-C-A
gnomAD v4:
10-49505883-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49505883C>A , CM000672.2:g.49505883C>A | GRCh38 |
| NC_000010.10:g.50713929C>A , CM000672.1:g.50713929C>A | GRCh37 |
| NC_000010.9:g.50383935C>A | NCBI36 |
| NG_009442.1:g.38219G>T , LRG_465:g.38219G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1526+1G>T MANE Select | ENSP00000348089.5:n.1526+1G>T | |
| ENST00000679811.1:n.1610G>T | ||
| ENST00000681632.1:n.1604+1G>T | ||
| ENST00000681659.1:c.1526+1G>T | ENSP00000505631.1:n.1526+1G>T | |
| ENST00000355832.9:c.1526+1G>T | ENSP00000348089.5:n.1526+1G>T | |
| ENST00000475116.1:n.116+1G>T | ||
| ENST00000623073.3:c.-5260G>T | ENSP00000485650.1:n.-5260G>T | |
| ENST00000623788.1:n.525+1G>T | ||
| NM_000124.3:c.1526+1G>T | NP_000115.1:n.1526+1G>T | |
| NM_001346440.1:c.1526+1G>T | NP_001333369.1:n.1526+1G>T | |
| NM_000124.4:c.1526+1G>T MANE Select | NP_000115.1:n.1526+1G>T | |
| NM_001346440.2:c.1526+1G>T | NP_001333369.1:n.1526+1G>T |