Linked Data
ClinVar Variation Id:
1954719
ClinVar RCV Id:
RCV002690155
dbSNP Id:
rs376565466
gnomAD v2:
11-74204305-G-T
gnomAD v3:
11-74493260-G-T
gnomAD v4:
11-74493260-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74493260G>T , CM000673.2:g.74493260G>T | GRCh38 |
| NC_000011.9:g.74204305G>T , CM000673.1:g.74204305G>T | GRCh37 |
| NC_000011.8:g.73881953G>T | NCBI36 |
| NG_051333.1:g.5454C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310109.5:c.444C>A MANE Select | ENSP00000309463.4:p.Asp148Glu | |
| ENST00000310109.4:c.444C>A | ENSP00000309463.4:p.Asp148Glu | |
| ENST00000527115.1:c.56C>A | ||
| ENST00000528085.1:c.181+207C>A | ||
| NM_001144869.1:c.444C>A | NP_001138341.1:p.Asp148Glu | |
| XM_011545021.1:c.444C>A | XP_011543323.1:p.Asp148Glu | |
| NM_001144869.2:c.444C>A | NP_001138341.1:p.Asp148Glu | |
| NM_001329941.1:c.444C>A | NP_001316870.1:p.Asp148Glu | |
| NM_001329942.1:c.237+207C>A | NP_001316871.1:n.237+207C>A | |
| NM_001144869.3:c.444C>A MANE Select | NP_001138341.1:p.Asp148Glu | |
| NM_001329941.2:c.444C>A | NP_001316870.1:p.Asp148Glu | |
| NM_001329942.2:c.237+207C>A | NP_001316871.1:n.237+207C>A |