Linked Data
ClinVar Variation Id:
213312
dbSNP Id:
rs757232992
ExAC:
5:127673704 G / A
gnomAD v3:
5-128338012-G-A
gnomAD v4:
5-128338012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338012G>A , CM000667.2:g.128338012G>A | GRCh38 |
| NC_000005.9:g.127673704G>A , CM000667.1:g.127673704G>A | GRCh37 |
| NC_000005.8:g.127701603G>A | NCBI36 |
| NG_008750.1:g.205032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.367C>T | ||
| ENST00000703785.1:n.448C>T | ||
| ENST00000262464.9:c.3583C>T MANE Select | ENSP00000262464.4:p.Arg1195Cys | |
| ENST00000262464.8:c.3583C>T | ENSP00000262464.4:p.Arg1195Cys | |
| ENST00000507835.5:c.133C>T | ENSP00000426839.1:p.Arg45Cys | |
| ENST00000508053.5:c.3583C>T | ENSP00000424571.1:p.Arg1195Cys | |
| ENST00000508989.5:c.3484C>T | ENSP00000425596.1:p.Arg1162Cys | |
| ENST00000619499.4:c.3580C>T | ENSP00000482132.1:p.Arg1194Cys | |
| NM_001999.3:c.3583C>T | NP_001990.2:p.Arg1195Cys | |
| XM_017009228.2:c.3430C>T | XP_016864717.1:p.Arg1144Cys | |
| NM_001999.4:c.3583C>T MANE Select | NP_001990.2:p.Arg1195Cys |