Linked Data
ClinVar Variation Id:
1684585
ClinVar RCV Id:
RCV002246201
dbSNP Id:
rs2147247715
MutSpliceDB:
CA407434160
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55138075C>T , CM000681.2:g.55138075C>T | GRCh38 |
| NC_000019.9:g.55649443C>T , CM000681.1:g.55649443C>T | GRCh37 |
| NC_000019.8:g.60341255C>T | NCBI36 |
| NG_011829.2:g.16164G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588981.6:c.388-1G>A MANE Select | ENSP00000467176.1:n.388-1G>A | |
| ENST00000291901.12:c.388-1G>A | ENSP00000291901.8:n.388-1G>A | |
| ENST00000356783.9:c.355-1G>A | ENSP00000349233.4:n.355-1G>A | |
| ENST00000536926.5:c.178-1G>A | ENSP00000439640.2:n.178-1G>A | |
| ENST00000585321.6:c.178-1G>A | ENSP00000467980.2:n.178-1G>A | |
| ENST00000587089.6:c.440-1G>A | ||
| ENST00000587465.6:c.178-1G>A | ENSP00000464843.2:n.178-1G>A | |
| ENST00000587758.5:c.355-1G>A | ENSP00000467789.1:n.355-1G>A | |
| ENST00000588147.5:c.376-1G>A | ENSP00000467299.1:n.376-1G>A | |
| ENST00000588426.5:c.79-1G>A | ENSP00000465991.1:n.79-1G>A | |
| ENST00000588981.5:c.388-1G>A | ENSP00000467176.1:n.388-1G>A | |
| ENST00000589226.5:c.355-1G>A | ENSP00000470854.1:n.355-1G>A | |
| ENST00000589745.5:c.41-1G>A | ||
| ENST00000592920.5:n.514-1G>A | ||
| ENST00000593046.5:c.388-1G>A | ENSP00000470777.1:n.388-1G>A | |
| ENST00000593194.5:c.231-1G>A | ||
| NM_001126132.2:c.388-1G>A | NP_001119604.1:n.388-1G>A | |
| NM_001126133.2:c.355-1G>A | NP_001119605.1:n.355-1G>A | |
| NM_001291774.1:c.355-1G>A | NP_001278703.1:n.355-1G>A | |
| NM_003283.5:c.388-1G>A | NP_003274.3:n.388-1G>A | |
| XM_006723343.2:c.424-1G>A | XP_006723406.1:n.424-1G>A | |
| XM_011527243.1:c.412-1G>A | XP_011525545.1:n.412-1G>A | |
| XM_011527244.1:c.391-1G>A | XP_011525546.1:n.391-1G>A | |
| XM_011527245.1:c.388-1G>A | XP_011525547.1:n.388-1G>A | |
| XM_011527246.1:c.376-1G>A | XP_011525548.1:n.376-1G>A | |
| XM_011527246.3:c.376-1G>A | XP_011525548.1:n.376-1G>A | |
| XM_017027186.1:c.388-1G>A | XP_016882675.1:n.388-1G>A | |
| XM_017027187.1:c.376-1G>A | XP_016882676.1:n.376-1G>A | |
| NM_003283.6:c.388-1G>A MANE Select | NP_003274.3:n.388-1G>A | |
| NM_001126132.3:c.388-1G>A | NP_001119604.1:n.388-1G>A | |
| NM_001126133.3:c.355-1G>A | NP_001119605.1:n.355-1G>A | |
| NM_001291774.2:c.355-1G>A | NP_001278703.1:n.355-1G>A |