Linked Data
ClinVar Variation Id:
2965560
ClinVar RCV Id:
RCV003825710
dbSNP Id:
rs1456848974
gnomAD v2:
19-35749872-C-T
gnomAD v3:
19-35258969-C-T
gnomAD v4:
19-35258969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35258969C>T , CM000681.2:g.35258969C>T | GRCh38 |
| NC_000019.9:g.35749872C>T , CM000681.1:g.35749872C>T | GRCh37 |
| NC_000019.8:g.40441712C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605618.6:c.479C>T MANE Select | ENSP00000474797.2:p.Thr160Met | |
| ENST00000347609.8:c.512C>T | ENSP00000262627.3:p.Thr171Met | |
| ENST00000354900.7:c.623C>T | ENSP00000346976.2:p.Thr208Met | |
| ENST00000360798.7:c.623C>T | ENSP00000354034.2:p.Thr208Met | |
| ENST00000361790.7:c.623C>T | ENSP00000354575.2:p.Thr208Met | |
| ENST00000427250.5:c.455-7390C>T | ENSP00000394479.1:n.455-7390C>T | |
| ENST00000597933.5:n.543C>T | ||
| ENST00000599658.1:c.122C>T | ENSP00000470630.1:p.Thr41Met | |
| ENST00000601623.5:c.281C>T | ENSP00000472154.3:p.Thr94Met | |
| ENST00000602044.2:n.401C>T | ||
| ENST00000602122.5:c.623C>T | ENSP00000472569.1:p.Thr208Met | |
| ENST00000605618.5:c.479C>T | ENSP00000474797.2:p.Thr160Met | |
| ENST00000621372.4:c.623C>T | ENSP00000480821.1:p.Thr208Met | |
| NM_001260489.1:c.623C>T | NP_001247418.1:p.Thr208Met | |
| NM_001260490.1:c.599-7390C>T | NP_001247419.1:n.599-7390C>T | |
| NM_015925.6:c.623C>T | NP_057009.3:p.Thr208Met | |
| NM_205834.3:c.623C>T | NP_991403.1:p.Thr208Met | |
| NM_205835.3:c.623C>T | NP_991404.1:p.Thr208Met | |
| XM_005258980.1:c.623C>T | XP_005259037.1:p.Thr208Met | |
| XM_005258982.1:c.623C>T | XP_005259039.1:p.Thr208Met | |
| XM_011527026.1:c.623C>T | XP_011525328.1:p.Thr208Met | |
| XM_005258980.2:c.623C>T | XP_005259037.1:p.Thr208Met | |
| XM_005258982.2:c.623C>T | XP_005259039.1:p.Thr208Met | |
| XM_011527026.2:c.623C>T | XP_011525328.1:p.Thr208Met | |
| NM_001260489.2:c.479C>T | NP_001247418.2:p.Thr160Met | |
| NM_001260490.2:c.455-7390C>T | NP_001247419.2:n.455-7390C>T | |
| NM_001385215.1:c.479C>T | NP_001372144.1:p.Thr160Met | |
| NM_015925.7:c.479C>T | NP_057009.4:p.Thr160Met | |
| NM_205834.4:c.479C>T MANE Select | NP_991403.2:p.Thr160Met | |
| NM_205835.4:c.479C>T | NP_991404.2:p.Thr160Met |