Linked Data
ClinVar Variation Id:
466589
dbSNP Id:
rs149185954
ExAC:
11:68704243 C / G
gnomAD v2:
11-68704243-C-G
gnomAD v3:
11-68936775-C-G
gnomAD v4:
11-68936775-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936775C>G , CM000673.2:g.68936775C>G | GRCh38 |
| NC_000011.9:g.68704243C>G , CM000673.1:g.68704243C>G | GRCh37 |
| NC_000011.8:g.68460819C>G | NCBI36 |
| NG_007976.1:g.37925C>G , LRG_250:g.37925C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.2295C>G MANE Select | ENSP00000255078.4:p.His765Gln | |
| ENST00000674675.1:c.539C>G | ||
| ENST00000674878.1:c.539C>G | ||
| ENST00000674955.1:c.*1012C>G | ENSP00000502463.1:n.*1012C>G | |
| ENST00000675118.1:c.1783C>G | ||
| ENST00000675389.1:n.570C>G | ||
| ENST00000675615.1:c.2295C>G | ENSP00000502413.1:p.His765Gln | |
| ENST00000675648.1:n.1670C>G | ||
| ENST00000675916.1:c.539C>G | ||
| ENST00000676173.1:n.3040C>G | ||
| ENST00000676182.1:c.726C>G | ||
| ENST00000676228.1:c.*1618C>G | ENSP00000502375.1:n.*1618C>G | |
| ENST00000255078.7:c.2295C>G | ENSP00000255078.3:p.His765Gln | |
| ENST00000539064.5:n.2054C>G | ||
| ENST00000543739.5:n.1288C>G | ||
| NM_002180.2:c.2295C>G , LRG_250t1:c.2295C>G | NP_002171.2:p.His765Gln | |
| XM_005273974.2:c.1284C>G | XP_005274031.1:p.His428Gln | |
| XM_005273975.2:c.1167C>G | XP_005274032.1:p.His389Gln | |
| XM_011544994.1:c.1062C>G | XP_011543296.1:p.His354Gln | |
| XR_949903.1:n.2397C>G | ||
| XM_005273975.3:c.1167C>G | XP_005274032.1:p.His389Gln | |
| XM_017017669.2:c.1284C>G | XP_016873158.1:p.His428Gln | |
| XM_017017670.2:c.1284C>G | XP_016873159.1:p.His428Gln | |
| XR_949903.3:n.2393C>G | ||
| NM_002180.3:c.2295C>G MANE Select | NP_002171.2:p.His765Gln |