Linked Data
ClinVar Variation Id:
417787
ClinVar RCV Id:
RCV000477709
dbSNP Id:
rs1060505042
gnomAD v3:
8-95260534-T-G
gnomAD v4:
8-95260534-T-G
PubMed:
PMID:25802487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95260534T>G , CM000670.2:g.95260534T>G | GRCh38 |
| NC_000008.10:g.96272762T>G , CM000670.1:g.96272762T>G | GRCh37 |
| NC_000008.9:g.96341938T>G | NCBI36 |
| NG_032804.1:g.13701A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286688.6:c.244-2A>C MANE Select | ENSP00000286688.5:n.244-2A>C | |
| ENST00000286688.5:c.244-2A>C | ENSP00000286688.5:n.244-2A>C | |
| NM_177965.3:c.244-2A>C | NP_808880.1:n.244-2A>C | |
| XM_005250799.2:c.583-2A>C | XP_005250856.2:n.583-2A>C | |
| NM_001363260.1:c.244-2A>C | NP_001350189.1:n.244-2A>C | |
| NM_177965.4:c.244-2A>C MANE Select | NP_808880.1:n.244-2A>C |