Linked Data
ClinVar Variation Id:
4090
dbSNP Id:
rs104893917
gnomAD v2:
5-149359920-G-A
gnomAD v3:
5-149980357-G-A
gnomAD v4:
5-149980357-G-A
PubMed:
PMID:8571951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980357G>A , CM000667.2:g.149980357G>A | GRCh38 |
| NC_000005.9:g.149359920G>A , CM000667.1:g.149359920G>A | GRCh37 |
| NC_000005.8:g.149340113G>A | NCBI36 |
| NG_007147.2:g.21475G>A , LRG_684:g.21475G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.764G>A MANE Select | ENSP00000286298.4:p.Gly255Glu | |
| ENST00000286298.4:c.764G>A | ENSP00000286298.4:p.Gly255Glu | |
| ENST00000503336.1:c.372+2006G>A | ENSP00000426053.1:n.372+2006G>A | |
| NM_000112.3:c.764G>A , LRG_684t1:c.764G>A | NP_000103.2:p.Gly255Glu | |
| XM_017009191.2:c.764G>A | XP_016864680.1:p.Gly255Glu | |
| NM_000112.4:c.764G>A MANE Select | NP_000103.2:p.Gly255Glu |