Linked Data
ClinVar Variation Id:
2743679
ClinVar RCV Id:
RCV003523666
gnomAD v4:
21-44288451-T-C
MyVariant Identifiers:
chr21:g.45708334T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288451T>C , CM000683.2:g.44288451T>C | GRCh38 |
| NC_000021.8:g.45708334T>C , CM000683.1:g.45708334T>C | GRCh37 |
| NC_000021.7:g.44532762T>C | NCBI36 |
| NG_009556.1:g.7572T>C , LRG_18:g.7572T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.645T>C MANE Select | ENSP00000291582.5:p.Phe215= | |
| ENST00000291582.5:c.645T>C | ENSP00000291582.5:p.Phe215= | |
| ENST00000527919.5:n.1189T>C | ||
| ENST00000530812.5:n.1197T>C | ||
| NM_000383.3:c.645T>C | NP_000374.1:p.Phe215= | |
| XM_011529551.1:c.645T>C | XP_011527853.1:p.Phe215= | |
| NM_000383.4:c.645T>C MANE Select | NP_000374.1:p.Phe215= |