Linked Data
ClinVar Variation Id:
13992
dbSNP Id:
rs1049564
ExAC:
14:20940606 G / A
gnomAD v2:
14-20940606-G-A
gnomAD v3:
14-20472447-G-A
gnomAD v4:
14-20472447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20472447G>A , CM000676.2:g.20472447G>A | GRCh38 |
| NC_000014.8:g.20940606G>A , CM000676.1:g.20940606G>A | GRCh37 |
| NC_000014.7:g.20010446G>A | NCBI36 |
| NG_009631.1:g.8065G>A , LRG_91:g.8065G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553591.2:c.268G>A | ENSP00000452421.2:p.Gly90Ser | |
| ENST00000556293.6:n.270G>A | ||
| ENST00000556754.2:n.1213G>A | ||
| ENST00000557229.6:n.270G>A | ||
| ENST00000697613.1:c.151G>A | ENSP00000513359.1:p.Gly51Ser | |
| ENST00000697614.1:c.-87G>A | ENSP00000513360.1:n.-87G>A | |
| ENST00000697615.1:n.669G>A | ||
| ENST00000361505.10:c.151G>A MANE Select | ENSP00000354532.6:p.Gly51Ser | |
| ENST00000361505.9:c.151G>A | ENSP00000354532.5:p.Gly51Ser | |
| ENST00000553418.5:c.151G>A | ENSP00000450663.1:p.Gly51Ser | |
| ENST00000553591.1:c.268G>A | ENSP00000452421.1:p.Gly90Ser | |
| ENST00000554056.5:n.262G>A | ||
| ENST00000554065.1:c.-87G>A | ENSP00000451108.1:n.-87G>A | |
| ENST00000556293.5:n.270G>A | ||
| ENST00000557229.5:n.270G>A | ||
| NM_000270.3:c.151G>A , LRG_91t1:c.151G>A | NP_000261.2:p.Gly51Ser | |
| NM_000270.4:c.151G>A MANE Select | NP_000261.2:p.Gly51Ser |