Linked Data
ClinVar Variation Id:
1583455
ClinVar RCV Id:
RCV002097760
dbSNP Id:
rs768876713
ExAC:
21:45710959 C / T
gnomAD v2:
21-45710959-C-T
gnomAD v3:
21-44291076-C-T
gnomAD v4:
21-44291076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291076C>T , CM000683.2:g.44291076C>T | GRCh38 |
| NC_000021.8:g.45710959C>T , CM000683.1:g.45710959C>T | GRCh37 |
| NC_000021.7:g.44535387C>T | NCBI36 |
| NG_009556.1:g.10197C>T , LRG_18:g.10197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.880-19C>T MANE Select | ENSP00000291582.5:n.880-19C>T | |
| ENST00000291582.5:c.880-19C>T | ENSP00000291582.5:n.880-19C>T | |
| ENST00000337909.5:n.322C>T | ||
| ENST00000397994.8:n.322C>T | ||
| ENST00000527919.5:n.1613-22C>T | ||
| ENST00000530812.5:n.2630-22C>T | ||
| NM_000383.3:c.880-19C>T | NP_000374.1:n.880-19C>T | |
| XM_011529551.1:c.880-22C>T | XP_011527853.1:n.880-22C>T | |
| NM_000383.4:c.880-19C>T MANE Select | NP_000374.1:n.880-19C>T |