Linked Data
ClinVar Variation Id:
179756
ClinVar RCV Id:
RCV000156554
RCV000253975
RCV000315534
RCV000393399
RCV000656851
RCV000692565
RCV001375636
dbSNP Id:
rs570878629
ExAC:
17:39928051 G / A
gnomAD v2:
17-39928051-G-A
gnomAD v3:
17-41771799-G-A
gnomAD v4:
17-41771799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41771799G>A , CM000679.2:g.41771799G>A | GRCh38 |
| NC_000017.10:g.39928051G>A , CM000679.1:g.39928051G>A | GRCh37 |
| NC_000017.9:g.37181577G>A | NCBI36 |
| NG_009090.2:g.19914C>T , LRG_401:g.19914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.56C>T MANE Select | ENSP00000377508.3:p.Thr19Ile | |
| ENST00000310706.9:c.56C>T | ENSP00000311113.5:p.Thr19Ile | |
| ENST00000393930.5:c.56C>T | ENSP00000377507.1:p.Thr19Ile | |
| ENST00000393931.7:c.56C>T | ENSP00000377508.3:p.Thr19Ile | |
| ENST00000420370.5:c.56C>T | ENSP00000411449.1:p.Thr19Ile | |
| ENST00000424457.5:c.56C>T | ENSP00000401034.1:p.Thr19Ile | |
| ENST00000437187.5:c.56C>T | ENSP00000394146.1:p.Thr19Ile | |
| ENST00000437369.5:c.56C>T | ENSP00000409948.1:p.Thr19Ile | |
| ENST00000449889.5:c.56C>T | ENSP00000389886.1:p.Thr19Ile | |
| ENST00000589036.1:n.184C>T | ||
| ENST00000591690.5:c.56C>T | ENSP00000468347.1:p.Thr19Ile | |
| NM_002230.2:c.56C>T , LRG_401t2:c.56C>T | NP_002221.1:p.Thr19Ile | |
| NM_021991.2:c.56C>T , LRG_401t1:c.56C>T | NP_068831.1:p.Thr19Ile | |
| XM_006721873.1:c.56C>T | XP_006721936.1:p.Thr19Ile | |
| XM_006721874.1:c.56C>T | XP_006721937.1:p.Thr19Ile | |
| XM_006721875.1:c.56C>T | XP_006721938.1:p.Thr19Ile | |
| XM_006721878.1:c.56C>T | XP_006721941.1:p.Thr19Ile | |
| XM_011524753.1:c.56C>T | XP_011523055.1:p.Thr19Ile | |
| XM_011524754.1:c.56C>T | XP_011523056.1:p.Thr19Ile | |
| XM_011524755.1:c.56C>T | XP_011523057.1:p.Thr19Ile | |
| XM_011524756.1:c.56C>T | XP_011523058.1:p.Thr19Ile | |
| XM_011524757.1:c.56C>T | XP_011523059.1:p.Thr19Ile | |
| XM_011524758.1:c.56C>T | XP_011523060.1:p.Thr19Ile | |
| NM_001352773.1:c.56C>T | NP_001339702.1:p.Thr19Ile | |
| NM_001352774.1:c.56C>T | NP_001339703.1:p.Thr19Ile | |
| NM_001352775.1:c.56C>T | NP_001339704.1:p.Thr19Ile | |
| NM_001352776.1:c.56C>T | NP_001339705.1:p.Thr19Ile | |
| NM_001352777.1:c.56C>T | NP_001339706.1:p.Thr19Ile | |
| NM_002230.3:c.56C>T | NP_002221.1:p.Thr19Ile | |
| NM_021991.3:c.56C>T | NP_068831.1:p.Thr19Ile | |
| XM_006721874.3:c.56C>T | XP_006721937.1:p.Thr19Ile | |
| XM_011524753.2:c.56C>T | XP_011523055.1:p.Thr19Ile | |
| XM_017024588.2:c.107C>T | XP_016880077.1:p.Thr36Ile | |
| XM_017024590.1:c.56C>T | XP_016880079.1:p.Thr19Ile | |
| NM_002230.4:c.56C>T MANE Select | NP_002221.1:p.Thr19Ile | |
| NM_001352773.2:c.56C>T | NP_001339702.1:p.Thr19Ile | |
| NM_001352774.2:c.56C>T | NP_001339703.1:p.Thr19Ile | |
| NM_001352775.2:c.56C>T | NP_001339704.1:p.Thr19Ile | |
| NM_001352776.2:c.56C>T | NP_001339705.1:p.Thr19Ile | |
| NM_001352777.2:c.56C>T | NP_001339706.1:p.Thr19Ile | |
| NM_021991.4:c.56C>T | NP_068831.1:p.Thr19Ile |