Linked Data
ClinVar Variation Id:
983404
dbSNP Id:
rs532986318
ExAC:
20:47605044 C / T
gnomAD v2:
20-47605044-C-T
gnomAD v3:
20-48988507-C-T
gnomAD v4:
20-48988507-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48988507C>T , CM000682.2:g.48988507C>T | GRCh38 |
| NC_000020.10:g.47605044C>T , CM000682.1:g.47605044C>T | GRCh37 |
| NC_000020.9:g.47038451C>T | NCBI36 |
| NG_011490.1:g.71770C>T | |
| NG_011490.2:g.71770C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.2378C>T MANE Select | ENSP00000360985.4:p.Thr793Met | |
| ENST00000679436.1:c.2375C>T | ENSP00000504888.1:p.Thr792Met | |
| ENST00000679542.1:n.1935C>T | ||
| ENST00000680635.1:n.1935C>T | ||
| ENST00000680871.1:c.2226C>T | ENSP00000505042.1:n.2226C>T | |
| ENST00000681021.1:c.2378C>T | ENSP00000505972.1:p.Thr793Met | |
| ENST00000681399.1:c.*2055C>T | ENSP00000506363.1:n.*2055C>T | |
| ENST00000681656.1:c.2269C>T | ENSP00000505638.1:n.2269C>T | |
| ENST00000681885.1:c.2378C>T | ENSP00000505737.1:p.Thr793Met | |
| ENST00000371917.4:c.2378C>T | ENSP00000360985.4:p.Thr793Met | |
| NM_006420.2:c.2378C>T | NP_006411.2:p.Thr793Met | |
| XM_005260252.2:c.2375C>T | XP_005260309.1:p.Thr792Met | |
| XM_005260252.3:c.2375C>T | XP_005260309.1:p.Thr792Met | |
| NM_006420.3:c.2378C>T MANE Select | NP_006411.2:p.Thr793Met |