Linked Data
ClinVar Variation Id:
335952
dbSNP Id:
rs148542782
ExAC:
2:38298329 G / A
gnomAD v2:
2-38298329-G-A
gnomAD v3:
2-38071186-G-A
gnomAD v4:
2-38071186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071186G>A , CM000664.2:g.38071186G>A | GRCh38 |
| NC_000002.11:g.38298329G>A , CM000664.1:g.38298329G>A | GRCh37 |
| NC_000002.10:g.38151833G>A | NCBI36 |
| NG_008386.2:g.9916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1168C>T | ENSP00000478839.2:p.Arg390Cys | |
| ENST00000610745.5:c.1168C>T MANE Select | ENSP00000478561.1:p.Arg390Cys | |
| ENST00000492443.1:n.546C>T | ||
| ENST00000494864.1:c.55C>T | ENSP00000479876.1:p.Arg19Cys | |
| ENST00000610745.4:c.1168C>T | ENSP00000478561.1:p.Arg390Cys | |
| ENST00000613082.1:n.563C>T | ||
| ENST00000614273.1:c.1168C>T | ENSP00000483678.1:p.Arg390Cys | |
| NM_000104.3:c.1168C>T | NP_000095.2:p.Arg390Cys | |
| NM_000104.4:c.1168C>T MANE Select | NP_000095.2:p.Arg390Cys |