Linked Data
ClinVar Variation Id:
496470
dbSNP Id:
rs987393686
gnomAD v2:
19-4090602-G-A
gnomAD v3:
19-4090604-G-A
gnomAD v4:
19-4090604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090604G>A , CM000681.2:g.4090604G>A | GRCh38 |
| NC_000019.9:g.4090602G>A , CM000681.1:g.4090602G>A | GRCh37 |
| NC_000019.8:g.4041602G>A | NCBI36 |
| NG_007996.1:g.38525C>T , LRG_750:g.38525C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1636C>T | ||
| ENST00000688002.1:n.3348C>T | ||
| ENST00000688751.1:n.333C>T | ||
| ENST00000689792.1:n.1101C>T | ||
| ENST00000262948.10:c.1197C>T MANE Select | ENSP00000262948.4:p.Ala399= | |
| ENST00000262948.9:c.1197C>T | ENSP00000262948.3:p.Ala399= | |
| ENST00000394867.8:c.906C>T | ENSP00000378336.1:p.Ala302= | |
| ENST00000597263.5:n.382C>T | ||
| ENST00000599021.1:c.307C>T | ||
| ENST00000600584.5:n.2646C>T | ||
| ENST00000601786.5:n.1498C>T | ||
| NM_030662.3:c.1197C>T , LRG_750t1:c.1197C>T | NP_109587.1:p.Ala399= | |
| XM_006722799.2:c.918C>T | XP_006722862.1:p.Ala306= | |
| XM_011528133.1:c.627C>T | XP_011526435.1:p.Ala209= | |
| NM_030662.4:c.1197C>T MANE Select | NP_109587.1:p.Ala399= |