Linked Data
ClinVar Variation Id:
1237
dbSNP Id:
rs121908285
ExAC:
8:43037305 C / T
gnomAD v2:
8-43037305-C-T
gnomAD v3:
8-43182162-C-T
gnomAD v4:
8-43182162-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43182162C>T , CM000670.2:g.43182162C>T | GRCh38 |
| NC_000008.10:g.43037305C>T , CM000670.1:g.43037305C>T | GRCh37 |
| NC_000008.9:g.43156462C>T | NCBI36 |
| NG_009552.1:g.46714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1030C>T MANE Select | ENSP00000368965.4:p.Arg344Cys | |
| ENST00000379644.8:c.1030C>T | ENSP00000368965.4:p.Arg344Cys | |
| ENST00000519000.1:n.516C>T | ||
| ENST00000521576.1:c.181C>T | ENSP00000429029.1:p.Arg61Cys | |
| ENST00000522082.5:c.271C>T | ENSP00000430151.1:p.Arg91Cys | |
| ENST00000524016.5:c.134C>T | ||
| NM_152419.2:c.1030C>T | NP_689632.2:p.Arg344Cys | |
| XM_005273409.1:c.1030C>T | XP_005273466.1:p.Arg344Cys | |
| XM_005273410.1:c.1030C>T | XP_005273467.1:p.Arg344Cys | |
| XM_005273411.1:c.838C>T | XP_005273468.1:p.Arg280Cys | |
| XM_005273412.2:c.1030C>T | XP_005273469.1:p.Arg344Cys | |
| NM_001363227.1:c.1030C>T | NP_001350156.1:p.Arg344Cys | |
| NM_001363228.1:c.838C>T | NP_001350157.1:p.Arg280Cys | |
| NM_001363229.1:c.166C>T | NP_001350158.1:p.Arg56Cys | |
| XM_005273412.4:c.1030C>T | XP_005273469.1:p.Arg344Cys | |
| NM_152419.3:c.1030C>T MANE Select | NP_689632.2:p.Arg344Cys | |
| NM_001363227.2:c.1030C>T | NP_001350156.1:p.Arg344Cys | |
| NM_001363228.2:c.838C>T | NP_001350157.1:p.Arg280Cys | |
| NM_001363229.2:c.166C>T | NP_001350158.1:p.Arg56Cys |