Linked Data
dbSNP Id:
rs757333002
ExAC:
3:46901129 G / T
gnomAD v2:
3-46901129-G-T
gnomAD v4:
3-46859639-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46859639G>T , CM000665.2:g.46859639G>T | GRCh38 |
| NC_000003.11:g.46901129G>T , CM000665.1:g.46901129G>T | GRCh37 |
| NC_000003.10:g.46876133G>T | NCBI36 |
| NG_007555.2:g.27531C>A , LRG_395:g.27531C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.317C>A | ENSP00000393455.2:p.Thr106Asn | |
| ENST00000292327.6:c.317C>A MANE Select | ENSP00000292327.4:p.Thr106Asn | |
| ENST00000653454.1:c.317C>A | ENSP00000499624.1:p.Thr106Asn | |
| ENST00000654597.1:c.317C>A | ENSP00000499406.1:p.Thr106Asn | |
| ENST00000655244.1:n.539C>A | ||
| ENST00000662933.1:c.317C>A | ENSP00000499577.1:p.Thr106Asn | |
| ENST00000664891.1:n.275C>A | ||
| ENST00000292327.4:c.317C>A | ENSP00000292327.4:p.Thr106Asn | |
| ENST00000395869.5:c.317C>A | ENSP00000379210.1:p.Thr106Asn | |
| NM_000258.2:c.317C>A , LRG_395t1:c.317C>A | NP_000249.1:p.Thr106Asn | |
| NM_000258.3:c.317C>A MANE Select | NP_000249.1:p.Thr106Asn |