Linked Data
ClinVar Variation Id:
2206380
ClinVar RCV Id:
RCV002652366
dbSNP Id:
rs772602315
ExAC:
1:209791904 C / A
gnomAD v2:
1-209791904-C-A
gnomAD v3:
1-209618559-C-A
gnomAD v4:
1-209618559-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209618559C>A , CM000663.2:g.209618559C>A | GRCh38 |
| NC_000001.10:g.209791904C>A , CM000663.1:g.209791904C>A | GRCh37 |
| NC_000001.9:g.207858527C>A | NCBI36 |
| NG_007116.1:g.38917G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.2802G>T MANE Select | ENSP00000348384.3:p.Glu934Asp | |
| ENST00000356082.8:c.2802G>T | ENSP00000348384.3:p.Glu934Asp | |
| ENST00000367030.7:c.2802G>T | ENSP00000355997.3:p.Glu934Asp | |
| ENST00000391911.5:c.2802G>T | ENSP00000375778.1:p.Glu934Asp | |
| ENST00000455193.1:c.9G>T | ENSP00000398683.1:p.Glu3Asp | |
| NM_000228.2:c.2802G>T | NP_000219.2:p.Glu934Asp | |
| NM_001017402.1:c.2802G>T | NP_001017402.1:p.Glu934Asp | |
| NM_001127641.1:c.2802G>T | NP_001121113.1:p.Glu934Asp | |
| XM_005273124.3:c.2802G>T | XP_005273181.1:p.Glu934Asp | |
| XM_005273124.4:c.2802G>T | XP_005273181.1:p.Glu934Asp | |
| XM_017001272.2:c.2610G>T | XP_016856761.1:p.Glu870Asp | |
| NM_000228.3:c.2802G>T MANE Select | NP_000219.2:p.Glu934Asp | |
| NM_001017402.2:c.2802G>T | NP_001017402.1:p.Glu934Asp |