Linked Data
ClinVar Variation Id:
3823
ClinVar RCV Id:
RCV000758702
dbSNP Id:
rs121908009
gnomAD v2:
12-56398762-G-A
gnomAD v4:
12-56004978-G-A
PubMed:
PMID:9428520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56004978G>A , CM000674.2:g.56004978G>A | GRCh38 |
| NC_000012.11:g.56398762G>A , CM000674.1:g.56398762G>A | GRCh37 |
| NC_000012.10:g.54685029G>A | NCBI36 |
| NG_008136.1:g.12720G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266971.8:c.1589G>A MANE Select | ENSP00000266971.3:p.Gly530Asp | |
| ENST00000266971.7:c.1589G>A | ENSP00000266971.3:p.Gly530Asp | |
| ENST00000356124.8:c.1589G>A | ENSP00000348440.4:p.Gly530Asp | |
| ENST00000394109.7:c.1589G>A | ENSP00000377668.3:p.Gly530Asp | |
| ENST00000394115.6:c.1589G>A | ENSP00000377674.2:p.Gly530Asp | |
| ENST00000548274.5:c.1589G>A | ENSP00000450245.1:p.Gly530Asp | |
| ENST00000550065.1:c.1589G>A | ENSP00000450264.1:p.Gly530Asp | |
| NM_000456.2:c.1589G>A | NP_000447.2:p.Gly530Asp | |
| NM_001032386.1:c.1589G>A | NP_001027558.1:p.Gly530Asp | |
| NM_001032387.1:c.1589G>A | NP_001027559.1:p.Gly530Asp | |
| XM_005269112.1:c.1610G>A | XP_005269169.1:p.Gly537Asp | |
| XM_017019905.2:c.1610G>A | XP_016875394.1:p.Gly537Asp | |
| XM_017019906.1:c.1610G>A | XP_016875395.1:p.Gly537Asp | |
| XM_017019907.2:c.1589G>A | XP_016875396.1:p.Gly530Asp | |
| XM_017019908.1:c.1589G>A | XP_016875397.1:p.Gly530Asp | |
| XM_024449167.1:c.1610G>A | XP_024304935.1:p.Gly537Asp | |
| NM_001032386.2:c.1589G>A MANE Select | NP_001027558.1:p.Gly530Asp | |
| NM_000456.3:c.1589G>A | NP_000447.2:p.Gly530Asp | |
| NM_001032387.2:c.1589G>A | NP_001027559.1:p.Gly530Asp |