Linked Data
ClinVar Variation Id:
36130
dbSNP Id:
rs193922245
ExAC:
15:48936884 T / C
gnomAD v2:
15-48936884-T-C
gnomAD v3:
15-48644687-T-C
gnomAD v4:
15-48644687-T-C
PubMed:
PMID:27930701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48644687T>C , CM000677.2:g.48644687T>C | GRCh38 |
| NC_000015.9:g.48936884T>C , CM000677.1:g.48936884T>C | GRCh37 |
| NC_000015.8:g.46724176T>C | NCBI36 |
| NG_008805.2:g.6102A>G , LRG_778:g.6102A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.83A>G | ENSP00000453958.2:p.Asn28Ser | |
| ENST00000674301.2:c.83A>G | ENSP00000501333.2:p.Asn28Ser | |
| ENST00000316623.10:c.83A>G MANE Select | ENSP00000325527.5:p.Asn28Ser | |
| ENST00000316623.9:c.83A>G | ENSP00000325527.5:p.Asn28Ser | |
| ENST00000537463.6:c.83A>G | ENSP00000440294.2:p.Asn28Ser | |
| ENST00000558230.1:n.146A>G | ||
| ENST00000560355.1:c.83A>G | ENSP00000453901.1:p.Asn28Ser | |
| NM_000138.4:c.83A>G , LRG_778t1:c.83A>G | NP_000129.3:p.Asn28Ser | |
| NM_000138.5:c.83A>G MANE Select | NP_000129.3:p.Asn28Ser |