Linked Data
ClinVar Variation Id:
1585361
ClinVar RCV Id:
RCV002095340
dbSNP Id:
rs749193829
ExAC:
21:45710958 G / C
gnomAD v2:
21-45710958-G-C
gnomAD v3:
21-44291075-G-C
gnomAD v4:
21-44291075-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291075G>C , CM000683.2:g.44291075G>C | GRCh38 |
| NC_000021.8:g.45710958G>C , CM000683.1:g.45710958G>C | GRCh37 |
| NC_000021.7:g.44535386G>C | NCBI36 |
| NG_009556.1:g.10196G>C , LRG_18:g.10196G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.880-20G>C MANE Select | ENSP00000291582.5:n.880-20G>C | |
| ENST00000291582.5:c.880-20G>C | ENSP00000291582.5:n.880-20G>C | |
| ENST00000337909.5:n.321G>C | ||
| ENST00000397994.8:n.321G>C | ||
| ENST00000527919.5:n.1613-23G>C | ||
| ENST00000530812.5:n.2630-23G>C | ||
| NM_000383.3:c.880-20G>C | NP_000374.1:n.880-20G>C | |
| XM_011529551.1:c.880-23G>C | XP_011527853.1:n.880-23G>C | |
| NM_000383.4:c.880-20G>C MANE Select | NP_000374.1:n.880-20G>C |