Linked Data
ClinVar Variation Id:
13990
ClinVar RCV Id:
RCV000015027
dbSNP Id:
rs104894450
gnomAD v3:
14-20474870-A-G
gnomAD v4:
14-20474870-A-G
PubMed:
PMID:1384322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20474870A>G , CM000676.2:g.20474870A>G | GRCh38 |
| NC_000014.8:g.20943029A>G , CM000676.1:g.20943029A>G | GRCh37 |
| NC_000014.7:g.20012869A>G | NCBI36 |
| NG_009631.1:g.10488A>G , LRG_91:g.10488A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553591.2:c.500A>G | ENSP00000452421.2:p.Asp167Gly | |
| ENST00000556293.6:n.2693A>G | ||
| ENST00000556754.2:n.3636A>G | ||
| ENST00000557229.6:n.699A>G | ||
| ENST00000697613.1:c.383A>G | ENSP00000513359.1:p.Asp128Gly | |
| ENST00000697614.1:c.146A>G | ENSP00000513360.1:p.Asp49Gly | |
| ENST00000697615.1:n.1098A>G | ||
| ENST00000361505.10:c.383A>G MANE Select | ENSP00000354532.6:p.Asp128Gly | |
| ENST00000361505.9:c.383A>G | ENSP00000354532.5:p.Asp128Gly | |
| ENST00000553591.1:c.500A>G | ENSP00000452421.1:p.Asp167Gly | |
| ENST00000554056.5:n.691A>G | ||
| ENST00000554065.1:c.146A>G | ENSP00000451108.1:p.Asp49Gly | |
| ENST00000556754.1:n.1487A>G | ||
| ENST00000557229.5:n.699A>G | ||
| NM_000270.3:c.383A>G , LRG_91t1:c.383A>G | NP_000261.2:p.Asp128Gly | |
| NM_000270.4:c.383A>G MANE Select | NP_000261.2:p.Asp128Gly |