Linked Data
ClinVar Variation Id:
1300022
ClinVar RCV Id:
RCV001731005
dbSNP Id:
rs2144579053
MutSpliceDB:
CA403982510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10486819C>A , CM000681.2:g.10486819C>A | GRCh38 |
| NC_000019.9:g.10597495C>A , CM000681.1:g.10597495C>A | GRCh37 |
| NC_000019.8:g.10458495C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000171111.10:c.1709-1G>T MANE Select | ENSP00000171111.4:n.1709-1G>T | |
| ENST00000171111.9:c.1709-1G>T | ENSP00000171111.4:n.1709-1G>T | |
| ENST00000393623.6:c.1709-1G>T | ENSP00000377245.1:n.1709-1G>T | |
| ENST00000590237.1:n.245-1G>T | ||
| ENST00000590593.1:c.482-1G>T | ||
| ENST00000592478.5:c.351-1G>T | ||
| NM_012289.3:c.1709-1G>T | NP_036421.2:n.1709-1G>T | |
| NM_203500.1:c.1709-1G>T | NP_987096.1:n.1709-1G>T | |
| XM_005260173.1:c.1709-1G>T | XP_005260230.1:n.1709-1G>T | |
| XM_005260174.1:c.1709-1G>T | XP_005260231.1:n.1709-1G>T | |
| XM_011528452.1:c.1709-1G>T | XP_011526754.1:n.1709-1G>T | |
| NM_203500.2:c.1709-1G>T MANE Select | NP_987096.1:n.1709-1G>T | |
| NM_012289.4:c.1709-1G>T | NP_036421.2:n.1709-1G>T |