Linked Data
ClinVar Variation Id:
2199388
ClinVar RCV Id:
RCV002624863
dbSNP Id:
rs747441052
ExAC:
11:68571492 C / T
gnomAD v2:
11-68571492-C-T
gnomAD v3:
11-68804024-C-T
gnomAD v4:
11-68804024-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68804024C>T , CM000673.2:g.68804024C>T | GRCh38 |
| NC_000011.9:g.68571492C>T , CM000673.1:g.68571492C>T | GRCh37 |
| NC_000011.8:g.68328068C>T | NCBI36 |
| NG_011801.1:g.42908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.531G>A MANE Select | ENSP00000265641.4:p.Pro177= | |
| ENST00000265641.9:c.531G>A | ENSP00000265641.4:p.Pro177= | |
| ENST00000376618.6:c.531G>A | ENSP00000365803.2:p.Pro177= | |
| ENST00000539743.5:c.531G>A | ENSP00000446108.1:p.Pro177= | |
| ENST00000540367.5:c.531G>A | ENSP00000439084.1:p.Pro177= | |
| NM_001031847.2:c.531G>A | NP_001027017.1:p.Pro177= | |
| NM_001876.3:c.531G>A | NP_001867.2:p.Pro177= | |
| XM_005273762.1:c.627G>A | XP_005273819.1:p.Pro209= | |
| XM_005273763.1:c.627G>A | XP_005273820.1:p.Pro209= | |
| XM_005273762.3:c.627G>A | XP_005273819.1:p.Pro209= | |
| XM_017017220.1:c.531G>A | XP_016872709.1:p.Pro177= | |
| NM_001876.4:c.531G>A MANE Select | NP_001867.2:p.Pro177= | |
| NM_001031847.3:c.531G>A | NP_001027017.1:p.Pro177= |