Linked Data
ClinVar Variation Id:
1357190
ClinVar RCV Id:
RCV001878236
dbSNP Id:
rs1434409844
gnomAD v2:
20-25288642-G-A
gnomAD v4:
20-25308006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25308006G>A , CM000682.2:g.25308006G>A | GRCh38 |
| NC_000020.10:g.25288642G>A , CM000682.1:g.25288642G>A | GRCh37 |
| NC_000020.9:g.25236642G>A | NCBI36 |
| NG_028119.1:g.87977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.827C>T MANE Select | ENSP00000341408.5:p.Thr276Ile | |
| ENST00000376542.8:c.827C>T | ENSP00000365725.3:p.Thr276Ile | |
| ENST00000465694.2:c.281C>T | ENSP00000459278.2:p.Thr94Ile | |
| ENST00000671784.1:c.281C>T | ENSP00000500451.1:p.Thr94Ile | |
| ENST00000671858.1:c.281C>T | ENSP00000500550.1:p.Thr94Ile | |
| ENST00000672001.1:n.338C>T | ||
| ENST00000672114.1:c.281C>T | ENSP00000499945.1:p.Thr94Ile | |
| ENST00000672258.1:c.281C>T | ENSP00000499868.1:p.Thr94Ile | |
| ENST00000672331.1:c.281C>T | ENSP00000500286.1:p.Thr94Ile | |
| ENST00000672358.1:c.281C>T | ENSP00000500062.1:p.Thr94Ile | |
| ENST00000672406.1:c.*166C>T | ENSP00000500208.1:n.*166C>T | |
| ENST00000672566.1:c.356C>T | ENSP00000500106.1:p.Thr119Ile | |
| ENST00000672596.1:c.281C>T | ENSP00000500290.1:p.Thr94Ile | |
| ENST00000672871.1:c.281C>T | ENSP00000499949.1:p.Thr94Ile | |
| ENST00000673094.1:c.281C>T | ENSP00000500257.1:p.Thr94Ile | |
| ENST00000673121.1:c.383C>T | ENSP00000499839.1:p.Thr128Ile | |
| ENST00000673227.1:c.281C>T | ENSP00000500514.1:p.Thr94Ile | |
| ENST00000673524.1:c.389C>T | ||
| ENST00000339157.9:c.827C>T | ENSP00000341408.5:p.Thr276Ile | |
| ENST00000376542.7:c.827C>T | ENSP00000365725.3:p.Thr276Ile | |
| ENST00000481556.1:n.481C>T | ||
| ENST00000491682.5:c.356C>T | ENSP00000459495.1:p.Thr119Ile | |
| ENST00000576316.5:c.131C>T | ENSP00000459121.1:p.Thr44Ile | |
| NM_001042472.2:c.827C>T | NP_001035937.1:p.Thr276Ile | |
| NM_015600.4:c.827C>T | NP_056415.1:p.Thr276Ile | |
| XM_005260698.1:c.827C>T | XP_005260755.1:p.Thr276Ile | |
| XM_005260699.3:c.827C>T | XP_005260756.1:p.Thr276Ile | |
| XM_005260700.1:c.356C>T | XP_005260757.1:p.Thr119Ile | |
| XM_011529214.1:c.827C>T | XP_011527516.1:p.Thr276Ile | |
| XM_011529215.1:c.356C>T | XP_011527517.1:p.Thr119Ile | |
| XM_011529216.1:c.356C>T | XP_011527518.1:p.Thr119Ile | |
| XM_011529217.1:c.170C>T | XP_011527519.1:p.Thr57Ile | |
| XM_011529218.1:c.170C>T | XP_011527520.1:p.Thr57Ile | |
| XM_011529214.2:c.827C>T | XP_011527516.1:p.Thr276Ile | |
| XM_017027796.1:c.356C>T | XP_016883285.1:p.Thr119Ile | |
| XR_002958465.1:n.837C>T | ||
| XR_002958466.1:n.957C>T | ||
| XR_002958467.1:n.516C>T | ||
| NM_001042472.3:c.827C>T MANE Select | NP_001035937.1:p.Thr276Ile | |
| NM_015600.5:c.827C>T | NP_056415.1:p.Thr276Ile |