Linked Data
ClinVar Variation Id:
1299483
ClinVar RCV Id:
RCV001728183
dbSNP Id:
rs2144585865
MutSpliceDB:
CA403983764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10489191C>A , CM000681.2:g.10489191C>A | GRCh38 |
| NC_000019.9:g.10599867C>A , CM000681.1:g.10599867C>A | GRCh37 |
| NC_000019.8:g.10460867C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000171111.10:c.1708+1G>T MANE Select | ENSP00000171111.4:n.1708+1G>T | |
| ENST00000171111.9:c.1708+1G>T | ENSP00000171111.4:n.1708+1G>T | |
| ENST00000393623.6:c.1708+1G>T | ENSP00000377245.1:n.1708+1G>T | |
| ENST00000590237.1:n.244+1G>T | ||
| ENST00000590593.1:c.481+1G>T | ||
| ENST00000592478.5:c.350+457G>T | ||
| NM_012289.3:c.1708+1G>T | NP_036421.2:n.1708+1G>T | |
| NM_203500.1:c.1708+1G>T | NP_987096.1:n.1708+1G>T | |
| XM_005260173.1:c.1708+1G>T | XP_005260230.1:n.1708+1G>T | |
| XM_005260174.1:c.1708+1G>T | XP_005260231.1:n.1708+1G>T | |
| XM_011528452.1:c.1708+1G>T | XP_011526754.1:n.1708+1G>T | |
| NM_203500.2:c.1708+1G>T MANE Select | NP_987096.1:n.1708+1G>T | |
| NM_012289.4:c.1708+1G>T | NP_036421.2:n.1708+1G>T |