Linked Data
ClinVar Variation Id:
43376
dbSNP Id:
rs397516345
ExAC:
19:55666113 G / A
gnomAD v2:
19-55666113-G-A
gnomAD v3:
19-55154745-G-A
gnomAD v4:
19-55154745-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154745G>A , CM000681.2:g.55154745G>A | GRCh38 |
| NC_000019.9:g.55666113G>A , CM000681.1:g.55666113G>A | GRCh37 |
| NC_000019.8:g.60357925G>A | NCBI36 |
| NG_007866.2:g.7988C>T , LRG_432:g.7988C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.368C>T MANE Select | ENSP00000341838.5:p.Thr123Met | |
| ENST00000665070.1:c.368C>T | ENSP00000499482.1:p.Thr123Met | |
| ENST00000344887.9:c.368C>T | ENSP00000341838.5:p.Thr123Met | |
| ENST00000585806.5:n.367C>T | ||
| ENST00000586669.5:n.376C>T | ||
| ENST00000587176.5:n.552C>T | ||
| ENST00000588882.1:c.293C>T | ENSP00000466729.1:p.Thr98Met | |
| NM_000363.4:c.368C>T , LRG_432t1:c.368C>T | NP_000354.4:p.Thr123Met | |
| NM_000363.5:c.368C>T MANE Select | NP_000354.4:p.Thr123Met |