Linked Data
ClinVar Variation Id:
427790
ClinVar RCV Id:
RCV000490807
dbSNP Id:
rs1114167451
gnomAD v4:
18-63355565-T-G
PubMed:
PMID:28575652
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63355565T>G , CM000680.2:g.63355565T>G | GRCh38 |
| NC_000018.9:g.61022798T>G , CM000680.1:g.61022798T>G | GRCh37 |
| NC_000018.8:g.59173778T>G | NCBI36 |
| NG_028249.1:g.16709A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000591902.6:c.256-2A>C | ENSP00000468203.2:n.256-2A>C | |
| ENST00000644624.1:c.*195-2A>C | ENSP00000494878.1:n.*195-2A>C | |
| ENST00000645214.2:c.256-2A>C MANE Select | ENSP00000494352.1:n.256-2A>C | |
| ENST00000646205.1:c.*406-2A>C | ENSP00000496260.1:n.*406-2A>C | |
| ENST00000326575.9:c.256-2A>C | ENSP00000312939.5:n.256-2A>C | |
| ENST00000406396.7:c.256-2A>C | ENSP00000385083.2:n.256-2A>C | |
| ENST00000589530.5:n.341-2A>C | ||
| ENST00000592327.1:c.256-2A>C | ENSP00000467962.1:n.256-2A>C | |
| NM_002035.2:c.256-2A>C | NP_002026.1:n.256-2A>C | |
| XM_005266677.1:c.256-2A>C | XP_005266734.1:n.256-2A>C | |
| XM_006722433.2:c.169-2A>C | XP_006722496.1:n.169-2A>C | |
| NM_002035.4:c.256-2A>C MANE Select | NP_002026.1:n.256-2A>C | |
| XM_005266677.3:c.256-2A>C | XP_005266734.1:n.256-2A>C | |
| XM_017025690.2:c.25-2A>C | XP_016881179.1:n.25-2A>C |