Linked Data
ClinVar Variation Id:
595092
dbSNP Id:
rs190464963
ExAC:
9:104189859 G / A
gnomAD v2:
9-104189859-G-A
gnomAD v3:
9-101427577-G-A
gnomAD v4:
9-101427577-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427577G>A , CM000671.2:g.101427577G>A | GRCh38 |
| NC_000009.11:g.104189859G>A , CM000671.1:g.104189859G>A | GRCh37 |
| NC_000009.10:g.103229680G>A | NCBI36 |
| NG_012387.1:g.13204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.445C>T MANE Select | ENSP00000497767.1:p.Arg149Cys | |
| ENST00000648064.1:c.445C>T | ENSP00000497990.1:p.Arg149Cys | |
| ENST00000648758.1:c.445C>T | ENSP00000497731.1:p.Arg149Cys | |
| ENST00000649902.1:c.445C>T | ENSP00000497216.1:p.Arg149Cys | |
| ENST00000374855.8:c.445C>T | ENSP00000363988.4:p.Arg149Cys | |
| ENST00000468981.3:n.68-939C>T | ||
| ENST00000616752.1:c.445C>T | ENSP00000481363.1:p.Arg149Cys | |
| NM_000035.3:c.445C>T | NP_000026.2:p.Arg149Cys | |
| NM_000035.4:c.445C>T MANE Select | NP_000026.2:p.Arg149Cys |