Linked Data
ClinVar Variation Id:
713659
dbSNP Id:
rs146235694
ExAC:
19:11492737 G / A
gnomAD v2:
19-11492737-G-A
gnomAD v3:
19-11382061-G-A
gnomAD v4:
19-11382061-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11382061G>A , CM000681.2:g.11382061G>A | GRCh38 |
| NC_000019.9:g.11492737G>A , CM000681.1:g.11492737G>A | GRCh37 |
| NC_000019.8:g.11353737G>A | NCBI36 |
| NG_021395.1:g.7282C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222139.11:c.296C>T MANE Select | ENSP00000222139.5:p.Ala99Val | |
| ENST00000222139.10:c.296C>T | ENSP00000222139.5:p.Ala99Val | |
| ENST00000586890.5:c.*39C>T | ENSP00000467230.1:n.*39C>T | |
| ENST00000588681.5:n.681C>T | ||
| ENST00000588859.5:c.*39C>T | ENSP00000466784.1:n.*39C>T | |
| ENST00000589402.1:n.455C>T | ||
| ENST00000591958.5:c.401C>T | ENSP00000468187.1:p.Ala134Val | |
| ENST00000592375.6:c.296C>T | ENSP00000467809.2:p.Ala99Val | |
| NM_000121.3:c.296C>T | NP_000112.1:p.Ala99Val | |
| NR_033663.1:n.681C>T | ||
| NM_000121.4:c.296C>T MANE Select | NP_000112.1:p.Ala99Val | |
| NR_033663.2:n.653C>T |