Linked Data
ClinVar Variation Id:
14779
ClinVar RCV Id:
RCV000015902
dbSNP Id:
rs121912455
ExAC:
21:33038809 G / A
gnomAD v2:
21-33038809-G-A
gnomAD v4:
21-31666496-G-A
PubMed:
PMID:9455977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31666496G>A , CM000683.2:g.31666496G>A | GRCh38 |
| NC_000021.8:g.33038809G>A , CM000683.1:g.33038809G>A | GRCh37 |
| NC_000021.7:g.31960680G>A | NCBI36 |
| NG_008689.1:g.11875G>A , LRG_652:g.11875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.217G>A MANE Select | ENSP00000270142.7:p.Gly73Ser | |
| ENST00000270142.10:c.217G>A | ENSP00000270142.6:p.Gly73Ser | |
| ENST00000389995.4:c.160G>A | ENSP00000374645.4:p.Gly54Ser | |
| ENST00000470944.1:n.1145G>A | ||
| ENST00000476106.5:n.480G>A | ||
| NM_000454.4:c.217G>A , LRG_652t1:c.217G>A | NP_000445.1:p.Gly73Ser | |
| NM_000454.5:c.217G>A MANE Select | NP_000445.1:p.Gly73Ser |