Linked Data
ClinVar Variation Id:
17262
dbSNP Id:
rs121912910
gnomAD v4:
7-94413083-G-A
PubMed:
PMID:7959683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94413083G>A , CM000669.2:g.94413083G>A | GRCh38 |
| NC_000007.13:g.94042395G>A , CM000669.1:g.94042395G>A | GRCh37 |
| NC_000007.12:g.93880331G>A | NCBI36 |
| NG_007405.1:g.23523G>A , LRG_2:g.23523G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.1504G>A MANE Select | ENSP00000297268.6:p.Gly502Ser | |
| ENST00000297268.10:c.1504G>A | ENSP00000297268.6:p.Gly502Ser | |
| ENST00000620463.1:c.1498G>A | ENSP00000477719.1:p.Gly500Ser | |
| NM_000089.3:c.1504G>A , LRG_2t1:c.1504G>A | NP_000080.2:p.Gly502Ser | |
| NM_000089.4:c.1504G>A MANE Select | NP_000080.2:p.Gly502Ser |