Linked Data
ClinVar Variation Id:
40846
dbSNP Id:
rs144850779
ExAC:
19:4090605 G / A
gnomAD v2:
19-4090605-G-A
gnomAD v3:
19-4090607-G-A
gnomAD v4:
19-4090607-G-A
ERepo:
CA137913/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090607G>A , CM000681.2:g.4090607G>A | GRCh38 |
| NC_000019.9:g.4090605G>A , CM000681.1:g.4090605G>A | GRCh37 |
| NC_000019.8:g.4041605G>A | NCBI36 |
| NG_007996.1:g.38522C>T , LRG_750:g.38522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1633C>T | ||
| ENST00000688002.1:n.3345C>T | ||
| ENST00000688751.1:n.330C>T | ||
| ENST00000689792.1:n.1098C>T | ||
| ENST00000262948.10:c.1194C>T MANE Select | ENSP00000262948.4:p.Thr398= | |
| ENST00000262948.9:c.1194C>T | ENSP00000262948.3:p.Thr398= | |
| ENST00000394867.8:c.903C>T | ENSP00000378336.1:p.Thr301= | |
| ENST00000597263.5:n.379C>T | ||
| ENST00000599021.1:c.304C>T | ||
| ENST00000600584.5:n.2643C>T | ||
| ENST00000601786.5:n.1495C>T | ||
| NM_030662.3:c.1194C>T , LRG_750t1:c.1194C>T | NP_109587.1:p.Thr398= | |
| XM_006722799.2:c.915C>T | XP_006722862.1:p.Thr305= | |
| XM_011528133.1:c.624C>T | XP_011526435.1:p.Thr208= | |
| NM_030662.4:c.1194C>T MANE Select | NP_109587.1:p.Thr398= |