Linked Data
ClinVar Variation Id:
40816
dbSNP Id:
rs10250
ExAC:
19:4101062 G / T
gnomAD v2:
19-4101062-G-T
gnomAD v3:
19-4101064-G-T
gnomAD v4:
19-4101064-G-T
ERepo:
CA137959/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4101064G>T , CM000681.2:g.4101064G>T | GRCh38 |
| NC_000019.9:g.4101062G>T , CM000681.1:g.4101062G>T | GRCh37 |
| NC_000019.8:g.4052062G>T | NCBI36 |
| NG_007996.1:g.28065C>A , LRG_750:g.28065C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1099C>A | ||
| ENST00000687128.1:n.1099C>A | ||
| ENST00000689792.1:n.600C>A | ||
| ENST00000262948.10:c.660C>A MANE Select | ENSP00000262948.4:p.Ile220= | |
| ENST00000262948.9:c.660C>A | ENSP00000262948.3:p.Ile220= | |
| ENST00000394867.8:c.369C>A | ENSP00000378336.1:p.Ile123= | |
| ENST00000593364.5:n.607C>A | ||
| ENST00000597008.5:n.261C>A | ||
| ENST00000597263.5:n.124C>A | ||
| ENST00000601786.5:n.961C>A | ||
| ENST00000602167.5:n.380C>A | ||
| NM_030662.3:c.660C>A , LRG_750t1:c.660C>A | NP_109587.1:p.Ile220= | |
| XM_006722799.2:c.660C>A | XP_006722862.1:p.Ile220= | |
| XM_011528133.1:c.90C>A | XP_011526435.1:p.Ile30= | |
| XM_017026989.1:c.660C>A | XP_016882478.1:p.Ile220= | |
| XM_017026990.1:c.660C>A | XP_016882479.1:p.Ile220= | |
| XM_017026991.1:c.660C>A | XP_016882480.1:p.Ile220= | |
| NM_030662.4:c.660C>A MANE Select | NP_109587.1:p.Ile220= |