Linked Data
ClinVar Variation Id:
382115
ClinVar RCV Id:
RCV000425437
dbSNP Id:
rs374728969
ExAC:
19:4090582 G / A
gnomAD v2:
19-4090582-G-A
gnomAD v3:
19-4090584-G-A
gnomAD v4:
19-4090584-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090584G>A , CM000681.2:g.4090584G>A | GRCh38 |
| NC_000019.9:g.4090582G>A , CM000681.1:g.4090582G>A | GRCh37 |
| NC_000019.8:g.4041582G>A | NCBI36 |
| NG_007996.1:g.38545C>T , LRG_750:g.38545C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1656C>T | ||
| ENST00000688002.1:n.3368C>T | ||
| ENST00000688751.1:n.353C>T | ||
| ENST00000689792.1:n.1121C>T | ||
| ENST00000262948.10:c.*14C>T MANE Select | ENSP00000262948.4:n.*14C>T | |
| ENST00000262948.9:c.*14C>T | ENSP00000262948.3:n.*14C>T | |
| ENST00000394867.8:c.*14C>T | ENSP00000378336.1:n.*14C>T | |
| ENST00000597263.5:n.402C>T | ||
| ENST00000600584.5:n.2666C>T | ||
| ENST00000601786.5:n.1518C>T | ||
| NM_030662.3:c.*14C>T , LRG_750t1:c.*14C>T | NP_109587.1:n.*14C>T | |
| XM_006722799.2:c.*14C>T | XP_006722862.1:n.*14C>T | |
| XM_011528133.1:c.*14C>T | XP_011526435.1:n.*14C>T | |
| NM_030662.4:c.*14C>T MANE Select | NP_109587.1:n.*14C>T |