Linked Data
ClinVar Variation Id:
361491
dbSNP Id:
rs199696853
ExAC:
8:11418838 C / T
gnomAD v2:
8-11418838-C-T
gnomAD v3:
8-11561329-C-T
gnomAD v4:
8-11561329-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11561329C>T , CM000670.2:g.11561329C>T | GRCh38 |
| NC_000008.10:g.11418838C>T , CM000670.1:g.11418838C>T | GRCh37 |
| NC_000008.9:g.11456247C>T | NCBI36 |
| NG_023543.1:g.72318C>T | |
| NG_023543.2:g.72318C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1165C>T | ||
| ENST00000696154.1:c.*375C>T | ENSP00000512445.1:n.*375C>T | |
| ENST00000259089.9:c.1057C>T MANE Select | ENSP00000259089.4:p.Arg353Cys | |
| ENST00000645242.1:c.844C>T | ENSP00000494690.1:p.Arg282Cys | |
| ENST00000259089.8:c.1057C>T | ENSP00000259089.4:p.Arg353Cys | |
| ENST00000526097.1:n.997C>T | ||
| ENST00000529894.1:c.844C>T | ENSP00000433663.1:p.Arg282Cys | |
| NM_001715.2:c.1057C>T | NP_001706.2:p.Arg353Cys | |
| XM_011543824.1:c.1135C>T | XP_011542126.1:p.Arg379Cys | |
| XM_011543825.1:c.1135C>T | XP_011542127.1:p.Arg379Cys | |
| XM_011543826.1:c.1135C>T | XP_011542128.1:p.Arg379Cys | |
| XM_011543827.1:c.922C>T | XP_011542129.1:p.Arg308Cys | |
| NM_001330465.1:c.844C>T | NP_001317394.1:p.Arg282Cys | |
| XM_011543825.3:c.1135C>T | XP_011542127.1:p.Arg379Cys | |
| NM_001715.3:c.1057C>T MANE Select | NP_001706.2:p.Arg353Cys | |
| NM_001330465.2:c.844C>T | NP_001317394.1:p.Arg282Cys |