Linked Data
ClinVar Variation Id:
241887
dbSNP Id:
rs190479708
ExAC:
12:8975915 A / T
gnomAD v2:
12-8975915-A-T
gnomAD v3:
12-8823319-A-T
gnomAD v4:
12-8823319-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8823319A>T , CM000674.2:g.8823319A>T | GRCh38 |
| NC_000012.11:g.8975915A>T , CM000674.1:g.8975915A>T | GRCh37 |
| NC_000012.10:g.8867182A>T | NCBI36 |
| NG_042857.1:g.5848A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299698.12:c.200A>T MANE Select | ENSP00000299698.7:p.Glu67Val | |
| ENST00000299698.11:c.200A>T | ENSP00000299698.7:p.Glu67Val | |
| NM_144670.4:c.200A>T | NP_653271.2:p.Glu67Val | |
| NM_144670.5:c.200A>T | NP_653271.2:p.Glu67Val | |
| XM_011520566.1:c.200A>T | XP_011518868.1:p.Glu67Val | |
| XM_011520567.1:c.200A>T | XP_011518869.1:p.Glu67Val | |
| XR_931275.1:n.298A>T | ||
| XM_011520566.2:c.200A>T | XP_011518868.1:p.Glu67Val | |
| XM_011520567.2:c.200A>T | XP_011518869.1:p.Glu67Val | |
| XM_017018868.1:c.200A>T | XP_016874357.1:p.Glu67Val | |
| XM_017018869.1:c.200A>T | XP_016874358.1:p.Glu67Val | |
| XM_017018870.1:c.200A>T | XP_016874359.1:p.Glu67Val | |
| XR_001748594.1:n.298A>T | ||
| NM_144670.6:c.200A>T MANE Select | NP_653271.3:p.Glu67Val |