Linked Data
ClinVar Variation Id:
138162
dbSNP Id:
rs587781028
ExAC:
19:4095427 G / A
gnomAD v2:
19-4095427-G-A
gnomAD v3:
19-4095429-G-A
gnomAD v4:
19-4095429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095429G>A , CM000681.2:g.4095429G>A | GRCh38 |
| NC_000019.9:g.4095427G>A , CM000681.1:g.4095427G>A | GRCh37 |
| NC_000019.8:g.4046427G>A | NCBI36 |
| NG_007996.1:g.33700C>T , LRG_750:g.33700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1444C>T | ||
| ENST00000688002.1:n.3156C>T | ||
| ENST00000688751.1:n.141C>T | ||
| ENST00000689792.1:n.909C>T | ||
| ENST00000262948.10:c.1005C>T MANE Select | ENSP00000262948.4:p.Asn335= | |
| ENST00000262948.9:c.1005C>T | ENSP00000262948.3:p.Asn335= | |
| ENST00000394867.8:c.714C>T | ENSP00000378336.1:p.Asn238= | |
| ENST00000595715.1:n.820C>T | ||
| ENST00000597263.5:n.190C>T | ||
| ENST00000599021.1:c.115C>T | ||
| ENST00000600584.5:n.1565C>T | ||
| ENST00000601786.5:n.1306C>T | ||
| NM_030662.3:c.1005C>T , LRG_750t1:c.1005C>T | NP_109587.1:p.Asn335= | |
| XM_006722799.2:c.726C>T | XP_006722862.1:p.Asn242= | |
| XM_011528133.1:c.435C>T | XP_011526435.1:p.Asn145= | |
| XM_017026989.1:c.1005C>T | XP_016882478.1:p.Asn335= | |
| XM_017026990.1:c.726C>T | XP_016882479.1:p.Asn242= | |
| NM_030662.4:c.1005C>T MANE Select | NP_109587.1:p.Asn335= |