Linked Data
ClinVar Variation Id:
1985561
ClinVar RCV Id:
RCV002780842
dbSNP Id:
rs748896492
ExAC:
10:82034856 C / T
gnomAD v2:
10-82034856-C-T
gnomAD v3:
10-80275100-C-T
gnomAD v4:
10-80275100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275100C>T , CM000672.2:g.80275100C>T | GRCh38 |
| NC_000010.10:g.82034856C>T , CM000672.1:g.82034856C>T | GRCh37 |
| NC_000010.9:g.82024836C>T | NCBI36 |
| NG_008083.1:g.19579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.868G>A MANE Select | ENSP00000361287.3:p.Val290Ile | |
| ENST00000372213.7:c.868G>A | ENSP00000361287.3:p.Val290Ile | |
| ENST00000480845.1:n.100G>A | ||
| ENST00000485270.5:n.380G>A | ||
| NM_000429.2:c.868G>A | NP_000420.1:p.Val290Ile | |
| XM_005269842.3:c.868G>A | XP_005269899.1:p.Val290Ile | |
| XM_005269843.3:c.745G>A | XP_005269900.1:p.Val249Ile | |
| NM_000429.3:c.868G>A MANE Select | NP_000420.1:p.Val290Ile |