Linked Data
ClinVar Variation Id:
259624
dbSNP Id:
rs139525851
ExAC:
11:47460351 G / A
gnomAD v2:
11-47460351-G-A
gnomAD v3:
11-47438800-G-A
gnomAD v4:
11-47438800-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47438800G>A , CM000673.2:g.47438800G>A | GRCh38 |
| NC_000011.9:g.47460351G>A , CM000673.1:g.47460351G>A | GRCh37 |
| NC_000011.8:g.47416927G>A | NCBI36 |
| NG_008312.1:g.15380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.1098C>T MANE Select | ENSP00000298854.2:p.Cys366= | |
| ENST00000298854.6:c.1098C>T | ENSP00000298854.2:p.Cys366= | |
| ENST00000352508.7:c.921C>T | ENSP00000298853.3:p.Cys307= | |
| ENST00000524487.5:c.939C>T | ENSP00000435551.2:p.Cys313= | |
| ENST00000528356.1:n.122-753C>T | ||
| ENST00000529341.1:c.921C>T | ENSP00000431732.1:p.Cys307= | |
| NM_005055.4:c.1098C>T | NP_005046.2:p.Cys366= | |
| NM_032645.4:c.921C>T | NP_116034.2:p.Cys307= | |
| XM_005253042.2:c.1044C>T | XP_005253099.1:p.Cys348= | |
| XM_005253043.2:c.975C>T | XP_005253100.1:p.Cys325= | |
| XM_011520252.1:c.1183C>T | XP_011518554.1:p.Arg395Trp | |
| XM_011520253.1:c.1122C>T | XP_011518555.1:p.Cys374= | |
| XM_005253042.3:c.1044C>T | XP_005253099.1:p.Cys348= | |
| XM_005253043.3:c.975C>T | XP_005253100.1:p.Cys325= | |
| NM_005055.5:c.1098C>T MANE Select | NP_005046.2:p.Cys366= | |
| NM_032645.5:c.921C>T | NP_116034.2:p.Cys307= |