Linked Data
ClinVar Variation Id:
1477719
ClinVar RCV Id:
RCV001971733
dbSNP Id:
rs121912453
gnomAD v2:
21-33032131-G-T
gnomAD v4:
21-31659818-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659818G>T , CM000683.2:g.31659818G>T | GRCh38 |
| NC_000021.8:g.33032131G>T , CM000683.1:g.33032131G>T | GRCh37 |
| NC_000021.7:g.31954002G>T | NCBI36 |
| NG_008689.1:g.5197G>T , LRG_652:g.5197G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270142.11:c.49G>T MANE Select | ENSP00000270142.7:p.Gly17Cys | |
| ENST00000270142.10:c.49G>T | ENSP00000270142.6:p.Gly17Cys | |
| ENST00000389995.4:c.15+34G>T | ENSP00000374645.4:n.15+34G>T | |
| ENST00000470944.1:n.110G>T | ||
| ENST00000476106.5:n.126G>T | ||
| NM_000454.4:c.49G>T , LRG_652t1:c.49G>T | NP_000445.1:p.Gly17Cys | |
| NM_000454.5:c.49G>T MANE Select | NP_000445.1:p.Gly17Cys |