Linked Data
ClinVar Variation Id:
1027629
dbSNP Id:
rs1382101858
gnomAD v2:
19-4090604-C-T
gnomAD v4:
19-4090606-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090606C>T , CM000681.2:g.4090606C>T | GRCh38 |
| NC_000019.9:g.4090604C>T , CM000681.1:g.4090604C>T | GRCh37 |
| NC_000019.8:g.4041604C>T | NCBI36 |
| NG_007996.1:g.38523G>A , LRG_750:g.38523G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1634G>A | ||
| ENST00000688002.1:n.3346G>A | ||
| ENST00000688751.1:n.331G>A | ||
| ENST00000689792.1:n.1099G>A | ||
| ENST00000262948.10:c.1195G>A MANE Select | ENSP00000262948.4:p.Ala399Thr | |
| ENST00000262948.9:c.1195G>A | ENSP00000262948.3:p.Ala399Thr | |
| ENST00000394867.8:c.904G>A | ENSP00000378336.1:p.Ala302Thr | |
| ENST00000597263.5:n.380G>A | ||
| ENST00000599021.1:c.305G>A | ||
| ENST00000600584.5:n.2644G>A | ||
| ENST00000601786.5:n.1496G>A | ||
| NM_030662.3:c.1195G>A , LRG_750t1:c.1195G>A | NP_109587.1:p.Ala399Thr | |
| XM_006722799.2:c.916G>A | XP_006722862.1:p.Ala306Thr | |
| XM_011528133.1:c.625G>A | XP_011526435.1:p.Ala209Thr | |
| NM_030662.4:c.1195G>A MANE Select | NP_109587.1:p.Ala399Thr |