Linked Data
ClinVar Variation Id:
279960
dbSNP Id:
rs117945277
ExAC:
19:4090612 G / A
gnomAD v2:
19-4090612-G-A
gnomAD v3:
19-4090614-G-A
gnomAD v4:
19-4090614-G-A
ERepo:
CA9090685/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090614G>A , CM000681.2:g.4090614G>A | GRCh38 |
| NC_000019.9:g.4090612G>A , CM000681.1:g.4090612G>A | GRCh37 |
| NC_000019.8:g.4041612G>A | NCBI36 |
| NG_007996.1:g.38515C>T , LRG_750:g.38515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1626C>T | ||
| ENST00000688002.1:n.3338C>T | ||
| ENST00000688751.1:n.323C>T | ||
| ENST00000689792.1:n.1091C>T | ||
| ENST00000262948.10:c.1187C>T MANE Select | ENSP00000262948.4:p.Thr396Met | |
| ENST00000262948.9:c.1187C>T | ENSP00000262948.3:p.Thr396Met | |
| ENST00000394867.8:c.896C>T | ENSP00000378336.1:p.Thr299Met | |
| ENST00000597263.5:n.372C>T | ||
| ENST00000599021.1:c.297C>T | ||
| ENST00000600584.5:n.2636C>T | ||
| ENST00000601786.5:n.1488C>T | ||
| NM_030662.3:c.1187C>T , LRG_750t1:c.1187C>T | NP_109587.1:p.Thr396Met | |
| XM_006722799.2:c.908C>T | XP_006722862.1:p.Thr303Met | |
| XM_011528133.1:c.617C>T | XP_011526435.1:p.Thr206Met | |
| NM_030662.4:c.1187C>T MANE Select | NP_109587.1:p.Thr396Met |