Linked Data
ClinVar Variation Id:
2935125
ClinVar RCV Id:
RCV003790779
dbSNP Id:
rs1432169288
gnomAD v4:
20-10412852-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412852T>C , CM000682.2:g.10412852T>C | GRCh38 |
| NC_000020.10:g.10393500T>C , CM000682.1:g.10393500T>C | GRCh37 |
| NC_000020.9:g.10341500T>C | NCBI36 |
| NG_009109.1:g.26367A>G | |
| NG_009109.2:g.26367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.663A>G | ENSP00000498849.1:p.Glu221= | |
| ENST00000652676.1:n.459-152A>G | ||
| ENST00000347364.7:c.663A>G MANE Select | ENSP00000246062.4:p.Glu221= | |
| ENST00000399054.6:c.663A>G | ENSP00000382008.2:p.Glu221= | |
| NM_018848.3:c.663A>G | NP_061336.1:p.Glu221= | |
| NM_170784.2:c.663A>G | NP_740754.1:p.Glu221= | |
| NR_072977.1:n.364-4049A>G | ||
| NR_072977.2:n.347-4049A>G | ||
| NM_170784.3:c.663A>G MANE Select | NP_740754.1:p.Glu221= |