Linked Data
ClinVar Variation Id:
1107520
ClinVar RCV Id:
RCV001432638
dbSNP Id:
rs2132344347
gnomAD v4:
9-34648438-C-T
MyVariant Identifiers:
chr9:g.34648435C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648438C>T , CM000671.2:g.34648438C>T | GRCh38 |
| NC_000009.11:g.34648435C>T , CM000671.1:g.34648435C>T | GRCh37 |
| NC_000009.10:g.34638435C>T | NCBI36 |
| NG_009029.1:g.6801C>T | |
| NG_028966.1:g.1254C>T | |
| NG_009029.2:g.6850C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*257C>T | ENSP00000509954.1:n.*257C>T | |
| ENST00000378842.8:c.669C>T MANE Select | ENSP00000368119.4:p.Arg223= | |
| ENST00000378842.7:c.669C>T | ENSP00000368119.3:p.Arg223= | |
| ENST00000450095.6:c.342C>T | ENSP00000401956.2:p.Arg114= | |
| ENST00000472111.5:n.925C>T | ||
| ENST00000473506.6:c.*257C>T | ENSP00000432839.2:n.*257C>T | |
| ENST00000473529.5:n.828C>T | ||
| ENST00000487381.5:n.1054C>T | ||
| ENST00000489643.6:n.444C>T | ||
| ENST00000554085.5:c.*413C>T | ENSP00000450419.1:n.*413C>T | |
| ENST00000554550.5:c.*289C>T | ENSP00000451435.1:n.*289C>T | |
| ENST00000554638.5:n.1141C>T | ||
| ENST00000555020.5:n.825C>T | ||
| ENST00000555086.5:n.673C>T | ||
| ENST00000555214.5:n.490C>T | ||
| ENST00000555754.1:n.14C>T | ||
| ENST00000556244.1:c.656C>T | ||
| ENST00000556278.1:c.414C>T | ENSP00000451792.1:p.Arg138= | |
| ENST00000556494.5:n.790C>T | ||
| ENST00000557706.5:n.1231C>T | ||
| NM_000155.3:c.669C>T | NP_000146.2:p.Arg223= | |
| NM_001258332.1:c.342C>T | NP_001245261.1:p.Arg114= | |
| NM_000155.4:c.669C>T MANE Select | NP_000146.2:p.Arg223= | |
| NM_001258332.2:c.342C>T | NP_001245261.1:p.Arg114= |