Linked Data
ClinVar Variation Id:
14754
dbSNP Id:
rs121912433
gnomAD v2:
21-33036154-G-A
PubMed:
PMID:8446170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31663841G>A , CM000683.2:g.31663841G>A | GRCh38 |
| NC_000021.8:g.33036154G>A , CM000683.1:g.33036154G>A | GRCh37 |
| NC_000021.7:g.31958025G>A | NCBI36 |
| NG_008689.1:g.9220G>A , LRG_652:g.9220G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.124G>A MANE Select | ENSP00000270142.7:p.Gly42Ser | |
| ENST00000270142.10:c.124G>A | ENSP00000270142.6:p.Gly42Ser | |
| ENST00000389995.4:c.67G>A | ENSP00000374645.4:p.Gly23Ser | |
| ENST00000470944.1:n.1052G>A | ||
| ENST00000476106.5:n.387G>A | ||
| NM_000454.4:c.124G>A , LRG_652t1:c.124G>A | NP_000445.1:p.Gly42Ser | |
| NM_000454.5:c.124G>A MANE Select | NP_000445.1:p.Gly42Ser |