Linked Data
ClinVar Variation Id:
544257
dbSNP Id:
rs374724533
ExAC:
19:1399179 G / A
gnomAD v2:
19-1399179-G-A
gnomAD v3:
19-1399180-G-A
gnomAD v4:
19-1399180-G-A
ERepo:
CA9043669/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399180G>A , CM000681.2:g.1399180G>A | GRCh38 |
| NC_000019.9:g.1399179G>A , CM000681.1:g.1399179G>A | GRCh37 |
| NC_000019.8:g.1350179G>A | NCBI36 |
| NG_009785.1:g.7374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.407C>T MANE Select | ENSP00000252288.1:p.Thr136Met | |
| ENST00000447102.8:c.407C>T | ENSP00000403536.2:p.Thr136Met | |
| ENST00000591788.3:c.90C>T | ||
| ENST00000640164.1:n.240C>T | ||
| ENST00000640762.1:c.338C>T | ENSP00000492031.1:p.Thr113Met | |
| ENST00000252288.6:c.407C>T | ENSP00000252288.1:p.Thr136Met | |
| ENST00000447102.7:c.407C>T | ENSP00000403536.2:p.Thr136Met | |
| ENST00000591788.2:c.92C>T | ENSP00000466341.2:p.Thr31Met | |
| NM_000156.5:c.407C>T | NP_000147.1:p.Thr136Met | |
| NM_138924.2:c.407C>T | NP_620279.1:p.Thr136Met | |
| NM_000156.6:c.407C>T MANE Select | NP_000147.1:p.Thr136Met | |
| NM_138924.3:c.407C>T | NP_620279.1:p.Thr136Met |