Linked Data
ClinVar Variation Id:
1426238
dbSNP Id:
rs779626645
ExAC:
4:55133746 C / T
gnomAD v2:
4-55133746-C-T
gnomAD v4:
4-54267579-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54267579C>T , CM000666.2:g.54267579C>T | GRCh38 |
| NC_000004.11:g.55133746C>T , CM000666.1:g.55133746C>T | GRCh37 |
| NC_000004.10:g.54828503C>T | NCBI36 |
| NG_009250.1:g.43483C>T , LRG_309:g.43483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257290.10:c.959C>T MANE Select | ENSP00000257290.5:p.Thr320Ile | |
| ENST00000257290.9:c.959C>T | ENSP00000257290.5:p.Thr320Ile | |
| ENST00000507166.5:c.1018-7346C>T | ENSP00000423325.1:n.1018-7346C>T | |
| ENST00000509092.5:n.777C>T | ||
| ENST00000509490.5:c.959C>T | ENSP00000424218.1:p.Thr320Ile | |
| NM_006206.4:c.959C>T , LRG_309t1:c.959C>T | NP_006197.1:p.Thr320Ile | |
| XM_005265743.1:c.959C>T | XP_005265800.1:p.Thr320Ile | |
| XM_006714039.2:c.1034C>T | XP_006714102.1:p.Thr345Ile | |
| XM_006714041.2:c.1034C>T | XP_006714104.1:p.Thr345Ile | |
| XM_011534385.1:c.959C>T | XP_011532687.1:p.Thr320Ile | |
| XM_011534386.1:c.959C>T | XP_011532688.1:p.Thr320Ile | |
| NM_001347827.1:c.959C>T | NP_001334756.1:p.Thr320Ile | |
| NM_001347828.1:c.1034C>T | NP_001334757.1:p.Thr345Ile | |
| NM_001347829.1:c.959C>T | NP_001334758.1:p.Thr320Ile | |
| NM_001347830.1:c.998C>T | NP_001334759.1:p.Thr333Ile | |
| NM_006206.5:c.959C>T | NP_006197.1:p.Thr320Ile | |
| XM_006714041.3:c.1034C>T | XP_006714104.1:p.Thr345Ile | |
| XM_017008281.1:c.998C>T | XP_016863770.1:p.Thr333Ile | |
| NM_006206.6:c.959C>T MANE Select | NP_006197.1:p.Thr320Ile | |
| NM_001347827.2:c.959C>T | NP_001334756.1:p.Thr320Ile | |
| NM_001347828.2:c.1034C>T | NP_001334757.1:p.Thr345Ile | |
| NM_001347829.2:c.959C>T | NP_001334758.1:p.Thr320Ile | |
| NM_001347830.2:c.998C>T | NP_001334759.1:p.Thr333Ile |