Linked Data
ClinVar Variation Id:
217287
ClinVar RCV Id:
RCV000240634
dbSNP Id:
rs886037755
PubMed:
PMID:26571382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100749889G>A , CM000672.2:g.100749889G>A | GRCh38 |
| NC_000010.10:g.102509646G>A , CM000672.1:g.102509646G>A | GRCh37 |
| NC_000010.9:g.102499636G>A | NCBI36 |
| NG_008680.1:g.9179G>A | |
| NG_008680.2:g.19181G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.280G>A | ENSP00000516729.1:p.Gly94Ser | |
| ENST00000707079.1:c.187G>A | ENSP00000516730.1:p.Gly63Ser | |
| ENST00000355243.8:c.187G>A MANE Select | ENSP00000347385.3:p.Gly63Ser | |
| ENST00000427256.6:c.187G>A | ENSP00000398652.2:p.Gly63Ser | |
| ENST00000679374.1:c.169G>A | ENSP00000506041.1:p.Gly57Ser | |
| ENST00000355243.7:c.187G>A | ENSP00000347385.2:p.Gly63Ser | |
| ENST00000361791.7:c.184G>A | ENSP00000355069.4:p.Gly62Ser | |
| ENST00000370296.6:c.187G>A | ENSP00000359319.3:p.Gly63Ser | |
| ENST00000427256.5:c.187G>A | ENSP00000398652.1:p.Gly63Ser | |
| ENST00000428433.5:c.187G>A | ENSP00000396259.1:p.Gly63Ser | |
| ENST00000483202.2:n.1189G>A | ||
| ENST00000553492.5:n.131+14156G>A | ||
| ENST00000554172.2:c.199G>A | ENSP00000452489.2:p.Gly67Ser | |
| ENST00000554363.2:n.125+3586G>A | ||
| NM_000278.3:c.187G>A | NP_000269.2:p.Gly63Ser | |
| NM_001304569.1:c.280G>A | NP_001291498.1:p.Gly94Ser | |
| NM_003987.3:c.187G>A | NP_003978.2:p.Gly63Ser | |
| NM_003988.3:c.187G>A | NP_003979.2:p.Gly63Ser | |
| NM_003989.3:c.187G>A | NP_003980.2:p.Gly63Ser | |
| NM_003990.3:c.187G>A | NP_003981.2:p.Gly63Ser | |
| NM_000278.4:c.187G>A | NP_000269.3:p.Gly63Ser | |
| NM_003987.4:c.187G>A | NP_003978.3:p.Gly63Ser | |
| NM_003988.4:c.187G>A | NP_003979.2:p.Gly63Ser | |
| NM_003989.4:c.187G>A | NP_003980.3:p.Gly63Ser | |
| NM_003990.4:c.187G>A | NP_003981.3:p.Gly63Ser | |
| NM_000278.5:c.187G>A MANE Select | NP_000269.3:p.Gly63Ser | |
| NM_001304569.2:c.280G>A | NP_001291498.1:p.Gly94Ser | |
| NM_003987.5:c.187G>A | NP_003978.3:p.Gly63Ser | |
| NM_003988.5:c.187G>A | NP_003979.2:p.Gly63Ser | |
| NM_003989.5:c.187G>A | NP_003980.3:p.Gly63Ser | |
| NM_003990.5:c.187G>A | NP_003981.3:p.Gly63Ser |