Linked Data
ClinVar Variation Id:
758382
ClinVar RCV Id:
RCV000936093
dbSNP Id:
rs995636470
gnomAD v4:
21-36747876-C-T
MyVariant Identifiers:
chr21:g.38120177C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36747876C>T , CM000683.2:g.36747876C>T | GRCh38 |
| NC_000021.8:g.38120177C>T , CM000683.1:g.38120177C>T | GRCh37 |
| NC_000021.7:g.37042047C>T | NCBI36 |
| NG_029519.1:g.53187C>T | |
| NG_016193.2:g.247519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290399.11:c.1788C>T MANE Select | ENSP00000290399.6:p.Pro596= | |
| ENST00000290399.10:c.1788C>T | ENSP00000290399.6:p.Pro596= | |
| NM_005069.4:c.1788C>T | NP_005060.1:p.Pro596= | |
| XM_011529694.1:c.1485C>T | XP_011527996.1:p.Pro495= | |
| XM_011529695.1:c.1383C>T | XP_011527997.1:p.Pro461= | |
| NM_005069.5:c.1788C>T | NP_005060.1:p.Pro596= | |
| NM_005069.6:c.1788C>T MANE Select | NP_005060.1:p.Pro596= |