Linked Data
ClinVar Variation Id:
256803
dbSNP Id:
rs4343
ExAC:
17:61566031 G / A
gnomAD v2:
17-61566031-G-A
gnomAD v3:
17-63488670-G-A
gnomAD v4:
17-63488670-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488670G>A , CM000679.2:g.63488670G>A | GRCh38 |
| NC_000017.10:g.61566031G>A , CM000679.1:g.61566031G>A | GRCh37 |
| NC_000017.9:g.58919763G>A | NCBI36 |
| NG_011648.1:g.16598G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.2328G>A MANE Select | ENSP00000290866.4:p.Thr776= | |
| ENST00000290863.10:c.606G>A | ENSP00000290863.6:p.Thr202= | |
| ENST00000290866.9:c.2328G>A | ENSP00000290866.4:p.Thr776= | |
| ENST00000413513.7:c.606G>A | ENSP00000392247.3:p.Thr202= | |
| ENST00000428043.5:c.2328G>A | ENSP00000397593.2:p.Thr776= | |
| ENST00000577647.2:c.606G>A | ENSP00000464149.1:p.Thr202= | |
| ENST00000578839.5:c.*398G>A | ENSP00000462110.2:n.*398G>A | |
| ENST00000579204.1:c.587G>A | ENSP00000464629.1:n.587G>A | |
| ENST00000579314.5:c.*57G>A | ENSP00000462599.1:n.*57G>A | |
| ENST00000582005.5:c.*248G>A | ENSP00000462002.1:n.*248G>A | |
| ENST00000582761.1:c.96G>A | ENSP00000462909.1:p.Thr32= | |
| ENST00000584865.5:n.274G>A | ||
| NM_000789.3:c.2328G>A | NP_000780.1:p.Thr776= | |
| NM_001178057.1:c.606G>A | NP_001171528.1:p.Thr202= | |
| NM_152830.2:c.606G>A | NP_690043.1:p.Thr202= | |
| XM_005257110.1:c.1779G>A | XP_005257167.1:p.Thr593= | |
| XM_006721737.2:c.666G>A | XP_006721800.2:p.Thr222= | |
| XM_006721737.3:c.666G>A | XP_006721800.2:p.Thr222= | |
| NM_000789.4:c.2328G>A MANE Select | NP_000780.1:p.Thr776= | |
| NM_001178057.2:c.606G>A | NP_001171528.1:p.Thr202= | |
| NM_152830.3:c.606G>A | NP_690043.1:p.Thr202= | |
| NM_001382700.1:c.1761G>A | NP_001369629.1:p.Thr587= | |
| NM_001382701.1:c.1476G>A | NP_001369630.1:p.Thr492= | |
| NM_001382702.1:c.258G>A | NP_001369631.1:p.Thr86= | |
| NR_168483.1:n.706G>A |