Linked Data
ClinVar Variation Id:
431140
ClinVar RCV Id:
RCV000496142
dbSNP Id:
rs1135401810
PubMed:
PMID:28708303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115975514C>T , CM000674.2:g.115975514C>T | GRCh38 |
| NC_000012.11:g.116413319C>T , CM000674.1:g.116413319C>T | GRCh37 |
| NC_000012.10:g.114897702C>T | NCBI36 |
| NG_023366.1:g.306673G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281928.9:c.5588+1G>A MANE Select | ENSP00000281928.3:n.5588+1G>A | |
| ENST00000548694.2:n.378G>A | ||
| ENST00000648379.1:n.3956+1G>A | ||
| ENST00000648737.1:n.5352+1G>A | ||
| ENST00000648825.1:n.3773+1G>A | ||
| ENST00000648916.1:n.3599+1G>A | ||
| ENST00000649607.1:c.3772+1G>A | ||
| ENST00000649775.1:c.2077+1G>A | ||
| ENST00000650226.1:c.5588+1G>A | ENSP00000496981.1:n.5588+1G>A | |
| ENST00000281928.7:c.5588+1G>A | ENSP00000281928.3:n.5588+1G>A | |
| ENST00000548694.1:n.378G>A | ||
| ENST00000552447.1:c.165+1G>A | ||
| NM_015335.4:c.5588+1G>A | NP_056150.1:n.5588+1G>A | |
| XM_011538080.1:c.5588+1G>A | XP_011536382.1:n.5588+1G>A | |
| XM_011538081.1:c.5585+1G>A | XP_011536383.1:n.5585+1G>A | |
| XM_011538082.1:c.5558+1G>A | XP_011536384.1:n.5558+1G>A | |
| XM_011538080.2:c.5588+1G>A | XP_011536382.1:n.5588+1G>A | |
| XM_011538081.2:c.5585+1G>A | XP_011536383.1:n.5585+1G>A | |
| XM_011538082.2:c.5558+1G>A | XP_011536384.1:n.5558+1G>A | |
| XM_017019090.1:c.5585+1G>A | XP_016874579.1:n.5585+1G>A | |
| NM_015335.5:c.5588+1G>A MANE Select | NP_056150.1:n.5588+1G>A |