Linked Data
ClinVar Variation Id:
505055
dbSNP Id:
rs879819202
gnomAD v3:
19-4094484-G-A
gnomAD v4:
19-4094484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094484G>A , CM000681.2:g.4094484G>A | GRCh38 |
| NC_000019.9:g.4094482G>A , CM000681.1:g.4094482G>A | GRCh37 |
| NC_000019.8:g.4045482G>A | NCBI36 |
| NG_007996.1:g.34645C>T , LRG_750:g.34645C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1500C>T | ||
| ENST00000688002.1:n.3212C>T | ||
| ENST00000688751.1:n.197C>T | ||
| ENST00000689792.1:n.965C>T | ||
| ENST00000262948.10:c.1061C>T MANE Select | ENSP00000262948.4:p.Pro354Leu | |
| ENST00000262948.9:c.1061C>T | ENSP00000262948.3:p.Pro354Leu | |
| ENST00000394867.8:c.770C>T | ENSP00000378336.1:p.Pro257Leu | |
| ENST00000597263.5:n.246C>T | ||
| ENST00000599021.1:c.171C>T | ||
| ENST00000600584.5:n.2510C>T | ||
| ENST00000601786.5:n.1362C>T | ||
| NM_030662.3:c.1061C>T , LRG_750t1:c.1061C>T | NP_109587.1:p.Pro354Leu | |
| XM_006722799.2:c.782C>T | XP_006722862.1:p.Pro261Leu | |
| XM_011528133.1:c.491C>T | XP_011526435.1:p.Pro164Leu | |
| NM_030662.4:c.1061C>T MANE Select | NP_109587.1:p.Pro354Leu |