Linked Data
dbSNP Id:
rs762079635
ExAC:
15:48703239 C / T
gnomAD v2:
15-48703239-C-T
gnomAD v4:
15-48411042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411042C>T , CM000677.2:g.48411042C>T | GRCh38 |
| NC_000015.9:g.48703239C>T , CM000677.1:g.48703239C>T | GRCh37 |
| NC_000015.8:g.46490531C>T | NCBI36 |
| NG_008805.2:g.239747G>A , LRG_778:g.239747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1372G>A | ENSP00000453958.2:n.*1372G>A | |
| ENST00000682158.1:n.1945G>A | ||
| ENST00000682170.1:n.2745G>A | ||
| ENST00000682767.1:n.1861G>A | ||
| ENST00000316623.10:c.8564G>A MANE Select | ENSP00000325527.5:p.Ser2855Asn | |
| ENST00000316623.9:c.8564G>A | ENSP00000325527.5:p.Ser2855Asn | |
| ENST00000559133.5:c.3933G>A | ||
| NM_000138.4:c.8564G>A , LRG_778t1:c.8564G>A | NP_000129.3:p.Ser2855Asn | |
| NM_000138.5:c.8564G>A MANE Select | NP_000129.3:p.Ser2855Asn |