Linked Data
ClinVar Variation Id:
1407871
dbSNP Id:
rs564067943
gnomAD v3:
19-4095413-C-T
gnomAD v4:
19-4095413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095413C>T , CM000681.2:g.4095413C>T | GRCh38 |
| NC_000019.9:g.4095411C>T , CM000681.1:g.4095411C>T | GRCh37 |
| NC_000019.8:g.4046411C>T | NCBI36 |
| NG_007996.1:g.33716G>A , LRG_750:g.33716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1460G>A | ||
| ENST00000688002.1:n.3172G>A | ||
| ENST00000688751.1:n.157G>A | ||
| ENST00000689792.1:n.925G>A | ||
| ENST00000262948.10:c.1021G>A MANE Select | ENSP00000262948.4:p.Asp341Asn | |
| ENST00000262948.9:c.1021G>A | ENSP00000262948.3:p.Asp341Asn | |
| ENST00000394867.8:c.730G>A | ENSP00000378336.1:p.Asp244Asn | |
| ENST00000595715.1:n.836G>A | ||
| ENST00000597263.5:n.206G>A | ||
| ENST00000599021.1:c.131G>A | ||
| ENST00000600584.5:n.1581G>A | ||
| ENST00000601786.5:n.1322G>A | ||
| NM_030662.3:c.1021G>A , LRG_750t1:c.1021G>A | NP_109587.1:p.Asp341Asn | |
| XM_006722799.2:c.742G>A | XP_006722862.1:p.Asp248Asn | |
| XM_011528133.1:c.451G>A | XP_011526435.1:p.Asp151Asn | |
| XM_017026989.1:c.1021G>A | XP_016882478.1:p.Asp341Asn | |
| XM_017026990.1:c.742G>A | XP_016882479.1:p.Asp248Asn | |
| NM_030662.4:c.1021G>A MANE Select | NP_109587.1:p.Asp341Asn |