Linked Data
ClinVar Variation Id:
1700620
ClinVar RCV Id:
RCV002274854
dbSNP Id:
rs1555226004
MutSpliceDB:
CA381624957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68757731C>A , CM000673.2:g.68757731C>A | GRCh38 |
| NC_000011.9:g.68525199C>A , CM000673.1:g.68525199C>A | GRCh37 |
| NC_000011.8:g.68281775C>A | NCBI36 |
| NG_011801.1:g.89201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.2236-1G>T MANE Select | ENSP00000265641.4:n.2236-1G>T | |
| ENST00000265641.9:c.2236-1G>T | ENSP00000265641.4:n.2236-1G>T | |
| ENST00000376618.6:c.2235+1838G>T | ENSP00000365803.2:n.2235+1838G>T | |
| ENST00000539743.5:c.2236-1G>T | ENSP00000446108.1:n.2236-1G>T | |
| ENST00000540367.5:c.2235+1838G>T | ENSP00000439084.1:n.2235+1838G>T | |
| NM_001031847.2:c.2235+1838G>T | NP_001027017.1:n.2235+1838G>T | |
| NM_001876.3:c.2236-1G>T | NP_001867.2:n.2236-1G>T | |
| XM_005273762.1:c.2332-1G>T | XP_005273819.1:n.2332-1G>T | |
| XM_005273763.1:c.2331+1838G>T | XP_005273820.1:n.2331+1838G>T | |
| XM_005273762.3:c.2332-1G>T | XP_005273819.1:n.2332-1G>T | |
| XM_017017220.1:c.2236-1G>T | XP_016872709.1:n.2236-1G>T | |
| NM_001876.4:c.2236-1G>T MANE Select | NP_001867.2:n.2236-1G>T | |
| NM_001031847.3:c.2235+1838G>T | NP_001027017.1:n.2235+1838G>T |