Linked Data
ClinVar Variation Id:
128337
dbSNP Id:
rs1133779
ExAC:
21:45717550 T / C
gnomAD v2:
21-45717550-T-C
gnomAD v3:
21-44297667-T-C
gnomAD v4:
21-44297667-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44297667T>C , CM000683.2:g.44297667T>C | GRCh38 |
| NC_000021.8:g.45717550T>C , CM000683.1:g.45717550T>C | GRCh37 |
| NC_000021.7:g.44541978T>C | NCBI36 |
| NG_009556.1:g.16788T>C , LRG_18:g.16788T>C | |
| NG_034033.1:g.2634T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1578T>C MANE Select | ENSP00000291582.5:p.Asp526= | |
| ENST00000291582.5:c.1578T>C | ENSP00000291582.5:p.Asp526= | |
| ENST00000337909.5:n.1039T>C | ||
| ENST00000397994.8:n.957T>C | ||
| ENST00000527919.5:n.2337T>C | ||
| ENST00000530812.5:n.3325T>C | ||
| NM_000383.3:c.1578T>C | NP_000374.1:p.Asp526= | |
| XM_011529551.1:c.1575T>C | XP_011527853.1:p.Asp525= | |
| NM_000383.4:c.1578T>C MANE Select | NP_000374.1:p.Asp526= |