Linked Data
ClinVar Variation Id:
1529198
ClinVar RCV Id:
RCV002087003
dbSNP Id:
rs571595941
gnomAD v3:
19-4090727-C-A
gnomAD v4:
19-4090727-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090727C>A , CM000681.2:g.4090727C>A | GRCh38 |
| NC_000019.9:g.4090725C>A , CM000681.1:g.4090725C>A | GRCh37 |
| NC_000019.8:g.4041725C>A | NCBI36 |
| NG_007996.1:g.38402G>T , LRG_750:g.38402G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1532-19G>T | ||
| ENST00000688002.1:n.3244-19G>T | ||
| ENST00000688751.1:n.229-19G>T | ||
| ENST00000689792.1:n.997-19G>T | ||
| ENST00000262948.10:c.1093-19G>T MANE Select | ENSP00000262948.4:n.1093-19G>T | |
| ENST00000262948.9:c.1093-19G>T | ENSP00000262948.3:n.1093-19G>T | |
| ENST00000394867.8:c.802-19G>T | ENSP00000378336.1:n.802-19G>T | |
| ENST00000597263.5:n.278-19G>T | ||
| ENST00000599021.1:c.203-19G>T | ||
| ENST00000600584.5:n.2542-19G>T | ||
| ENST00000601786.5:n.1394-19G>T | ||
| NM_030662.3:c.1093-19G>T , LRG_750t1:c.1093-19G>T | NP_109587.1:n.1093-19G>T | |
| XM_006722799.2:c.814-19G>T | XP_006722862.1:n.814-19G>T | |
| XM_011528133.1:c.523-19G>T | XP_011526435.1:n.523-19G>T | |
| NM_030662.4:c.1093-19G>T MANE Select | NP_109587.1:n.1093-19G>T |