Linked Data
ClinVar Variation Id:
339665
ClinVar RCV Id:
RCV000387931
dbSNP Id:
rs16988395
gnomAD v2:
21-33032028-C-T
gnomAD v3:
21-31659715-C-T
gnomAD v4:
21-31659715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659715C>T , CM000683.2:g.31659715C>T | GRCh38 |
| NC_000021.8:g.33032028C>T , CM000683.1:g.33032028C>T | GRCh37 |
| NC_000021.7:g.31953899C>T | NCBI36 |
| NG_008689.1:g.5094C>T , LRG_652:g.5094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.-55C>T MANE Select | ENSP00000270142.7:n.-55C>T | |
| ENST00000270142.10:c.-55C>T | ENSP00000270142.6:n.-55C>T | |
| ENST00000389995.4:c.-55C>T | ENSP00000374645.4:n.-55C>T | |
| ENST00000470944.1:n.7C>T | ||
| ENST00000476106.5:n.23C>T | ||
| NM_000454.4:c.-55C>T , LRG_652t1:c.-55C>T | NP_000445.1:n.-55C>T | |
| NM_000454.5:c.-55C>T MANE Select | NP_000445.1:n.-55C>T |