Linked Data
ClinVar Variation Id:
2502258
ClinVar RCV Id:
RCV003228676
dbSNP Id:
rs559044334
ExAC:
9:139581659 G / A
gnomAD v2:
9-139581659-G-A
gnomAD v3:
9-136687207-G-A
gnomAD v4:
9-136687207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687207G>A , CM000671.2:g.136687207G>A | GRCh38 |
| NC_000009.11:g.139581659G>A , CM000671.1:g.139581659G>A | GRCh37 |
| NC_000009.10:g.138701480G>A | NCBI36 |
| NG_008090.1:g.5253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.151C>T MANE Select | ENSP00000360761.2:p.Arg51Cys | |
| ENST00000371694.7:c.151C>T | ENSP00000360759.3:p.Arg51Cys | |
| ENST00000371696.6:c.151C>T | ENSP00000360761.2:p.Arg51Cys | |
| ENST00000470861.1:n.159C>T | ||
| ENST00000538402.1:c.151C>T | ENSP00000438919.1:p.Arg51Cys | |
| NM_001012727.1:c.151C>T | NP_001012745.1:p.Arg51Cys | |
| NM_006412.3:c.151C>T | NP_006403.2:p.Arg51Cys | |
| NM_006412.4:c.151C>T MANE Select | NP_006403.2:p.Arg51Cys | |
| NM_001012727.2:c.151C>T | NP_001012745.1:p.Arg51Cys |