Linked Data
ClinVar Variation Id:
25137
ClinVar RCV Id:
RCV001831595
dbSNP Id:
rs111033658
gnomAD v2:
9-34647202-C-T
gnomAD v3:
9-34647205-C-T
gnomAD v4:
9-34647205-C-T
PubMed:
PMID:8598637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647205C>T , CM000671.2:g.34647205C>T | GRCh38 |
| NC_000009.11:g.34647202C>T , CM000671.1:g.34647202C>T | GRCh37 |
| NC_000009.10:g.34637202C>T | NCBI36 |
| NG_009029.1:g.5568C>T | |
| NG_028966.1:g.21C>T | |
| NG_009029.2:g.5617C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.199C>T | ENSP00000509954.1:p.Arg67Cys | |
| ENST00000378842.8:c.199C>T MANE Select | ENSP00000368119.4:p.Arg67Cys | |
| ENST00000378842.7:c.199C>T | ENSP00000368119.3:p.Arg67Cys | |
| ENST00000450095.6:c.-4C>T | ENSP00000401956.2:n.-4C>T | |
| ENST00000465543.6:n.538C>T | ||
| ENST00000468099.2:n.239C>T | ||
| ENST00000472111.5:n.240C>T | ||
| ENST00000473506.6:c.199C>T | ENSP00000432839.2:p.Arg67Cys | |
| ENST00000473529.5:n.246C>T | ||
| ENST00000485531.1:n.192C>T | ||
| ENST00000487381.5:n.225C>T | ||
| ENST00000489643.6:n.229C>T | ||
| ENST00000554085.5:c.199C>T | ENSP00000450419.1:p.Arg67Cys | |
| ENST00000554139.5:n.252C>T | ||
| ENST00000554330.5:n.196C>T | ||
| ENST00000554550.5:c.199C>T | ENSP00000451435.1:p.Arg67Cys | |
| ENST00000554638.5:n.223C>T | ||
| ENST00000554897.5:c.199C>T | ENSP00000450942.1:p.Arg67Cys | |
| ENST00000554944.5:n.229C>T | ||
| ENST00000555020.5:n.229C>T | ||
| ENST00000555086.5:n.203C>T | ||
| ENST00000555214.5:n.208C>T | ||
| ENST00000556157.1:n.306C>T | ||
| ENST00000556244.1:c.83C>T | ||
| ENST00000556278.1:c.199C>T | ENSP00000451792.1:p.Arg67Cys | |
| ENST00000556403.5:n.212C>T | ||
| ENST00000556494.5:n.231C>T | ||
| ENST00000557541.5:n.392C>T | ||
| ENST00000557706.5:n.313C>T | ||
| NM_000155.3:c.199C>T | NP_000146.2:p.Arg67Cys | |
| NM_001258332.1:c.-4C>T | NP_001245261.1:n.-4C>T | |
| NM_000155.4:c.199C>T MANE Select | NP_000146.2:p.Arg67Cys | |
| NM_001258332.2:c.-4C>T | NP_001245261.1:n.-4C>T |