Linked Data
dbSNP Id:
rs766471411
ExAC:
15:48720662 T / C
gnomAD v2:
15-48720662-T-C
gnomAD v4:
15-48428465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428465T>C , CM000677.2:g.48428465T>C | GRCh38 |
| NC_000015.9:g.48720662T>C , CM000677.1:g.48720662T>C | GRCh37 |
| NC_000015.8:g.46507954T>C | NCBI36 |
| NG_008805.2:g.222324A>G , LRG_778:g.222324A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6878A>G | ENSP00000453958.2:p.Asn2293Ser | |
| ENST00000674301.2:c.*329A>G | ENSP00000501333.2:n.*329A>G | |
| ENST00000682170.1:n.487A>G | ||
| ENST00000682767.1:n.113A>G | ||
| ENST00000316623.10:c.6878A>G MANE Select | ENSP00000325527.5:p.Asn2293Ser | |
| ENST00000674301.1:c.1982A>G | ENSP00000501333.1:n.1982A>G | |
| ENST00000316623.9:c.6878A>G | ENSP00000325527.5:p.Asn2293Ser | |
| ENST00000559133.5:c.2185A>G | ||
| ENST00000560720.1:n.165A>G | ||
| NM_000138.4:c.6878A>G , LRG_778t1:c.6878A>G | NP_000129.3:p.Asn2293Ser | |
| NM_000138.5:c.6878A>G MANE Select | NP_000129.3:p.Asn2293Ser |