Linked Data
ClinVar Variation Id:
1580228
ClinVar RCV Id:
RCV002085711
dbSNP Id:
rs374690585
ExAC:
17:61564379 C / T
gnomAD v2:
17-61564379-C-T
gnomAD v3:
17-63487018-C-T
gnomAD v4:
17-63487018-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487018C>T , CM000679.2:g.63487018C>T | GRCh38 |
| NC_000017.10:g.61564379C>T , CM000679.1:g.61564379C>T | GRCh37 |
| NC_000017.9:g.58918111C>T | NCBI36 |
| NG_011648.1:g.14946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2250C>T MANE Select | ENSP00000290866.4:p.Thr750= | |
| ENST00000290863.10:c.528C>T | ENSP00000290863.6:p.Thr176= | |
| ENST00000290866.9:c.2250C>T | ENSP00000290866.4:p.Thr750= | |
| ENST00000413513.7:c.528C>T | ENSP00000392247.3:p.Thr176= | |
| ENST00000428043.5:c.2250C>T | ENSP00000397593.2:p.Thr750= | |
| ENST00000577647.2:c.528C>T | ENSP00000464149.1:p.Thr176= | |
| ENST00000578839.5:c.*320C>T | ENSP00000462110.2:n.*320C>T | |
| ENST00000579204.1:c.431C>T | ENSP00000464629.1:n.431C>T | |
| ENST00000579314.5:c.528C>T | ENSP00000462599.1:p.Thr176= | |
| ENST00000579726.5:c.812C>T | ||
| ENST00000582005.5:c.*170C>T | ENSP00000462002.1:n.*170C>T | |
| ENST00000582761.1:c.18C>T | ENSP00000462909.1:p.Thr6= | |
| ENST00000584865.5:n.196C>T | ||
| NM_000789.3:c.2250C>T | NP_000780.1:p.Thr750= | |
| NM_001178057.1:c.528C>T | NP_001171528.1:p.Thr176= | |
| NM_152830.2:c.528C>T | NP_690043.1:p.Thr176= | |
| XM_005257110.1:c.1701C>T | XP_005257167.1:p.Thr567= | |
| XM_006721737.2:c.588C>T | XP_006721800.2:p.Thr196= | |
| XM_006721737.3:c.588C>T | XP_006721800.2:p.Thr196= | |
| NM_000789.4:c.2250C>T MANE Select | NP_000780.1:p.Thr750= | |
| NM_001178057.2:c.528C>T | NP_001171528.1:p.Thr176= | |
| NM_152830.3:c.528C>T | NP_690043.1:p.Thr176= | |
| NM_001382700.1:c.1683C>T | NP_001369629.1:p.Thr561= | |
| NM_001382701.1:c.1398C>T | NP_001369630.1:p.Thr466= | |
| NM_001382702.1:c.180C>T | NP_001369631.1:p.Thr60= | |
| NR_168483.1:n.550C>T |