Linked Data
ClinVar Variation Id:
2891299
ClinVar RCV Id:
RCV003750567
dbSNP Id:
rs1029215336
gnomAD v4:
11-68804115-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68804115A>G , CM000673.2:g.68804115A>G | GRCh38 |
| NC_000011.9:g.68571583A>G , CM000673.1:g.68571583A>G | GRCh37 |
| NC_000011.8:g.68328159A>G | NCBI36 |
| NG_011801.1:g.42817T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.454-14T>C MANE Select | ENSP00000265641.4:n.454-14T>C | |
| ENST00000265641.9:c.454-14T>C | ENSP00000265641.4:n.454-14T>C | |
| ENST00000376618.6:c.454-14T>C | ENSP00000365803.2:n.454-14T>C | |
| ENST00000539743.5:c.454-14T>C | ENSP00000446108.1:n.454-14T>C | |
| ENST00000540367.5:c.454-14T>C | ENSP00000439084.1:n.454-14T>C | |
| NM_001031847.2:c.454-14T>C | NP_001027017.1:n.454-14T>C | |
| NM_001876.3:c.454-14T>C | NP_001867.2:n.454-14T>C | |
| XM_005273762.1:c.550-14T>C | XP_005273819.1:n.550-14T>C | |
| XM_005273763.1:c.550-14T>C | XP_005273820.1:n.550-14T>C | |
| XM_005273762.3:c.550-14T>C | XP_005273819.1:n.550-14T>C | |
| XM_017017220.1:c.454-14T>C | XP_016872709.1:n.454-14T>C | |
| NM_001876.4:c.454-14T>C MANE Select | NP_001867.2:n.454-14T>C | |
| NM_001031847.3:c.454-14T>C | NP_001027017.1:n.454-14T>C |