Linked Data
ClinVar Variation Id:
2109269
ClinVar RCV Id:
RCV003038273
dbSNP Id:
rs1211267776
gnomAD v4:
9-34647200-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647200T>C , CM000671.2:g.34647200T>C | GRCh38 |
| NC_000009.11:g.34647197T>C , CM000671.1:g.34647197T>C | GRCh37 |
| NC_000009.10:g.34637197T>C | NCBI36 |
| NG_009029.1:g.5563T>C | |
| NG_028966.1:g.16T>C | |
| NG_009029.2:g.5612T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.194T>C | ENSP00000509954.1:p.Val65Ala | |
| ENST00000378842.8:c.194T>C MANE Select | ENSP00000368119.4:p.Val65Ala | |
| ENST00000378842.7:c.194T>C | ENSP00000368119.3:p.Val65Ala | |
| ENST00000450095.6:c.-9T>C | ENSP00000401956.2:n.-9T>C | |
| ENST00000465543.6:n.533T>C | ||
| ENST00000468099.2:n.234T>C | ||
| ENST00000472111.5:n.235T>C | ||
| ENST00000473506.6:c.194T>C | ENSP00000432839.2:p.Val65Ala | |
| ENST00000473529.5:n.241T>C | ||
| ENST00000485531.1:n.187T>C | ||
| ENST00000487381.5:n.220T>C | ||
| ENST00000489643.6:n.224T>C | ||
| ENST00000554085.5:c.194T>C | ENSP00000450419.1:p.Val65Ala | |
| ENST00000554139.5:n.247T>C | ||
| ENST00000554330.5:n.191T>C | ||
| ENST00000554550.5:c.194T>C | ENSP00000451435.1:p.Val65Ala | |
| ENST00000554638.5:n.218T>C | ||
| ENST00000554897.5:c.194T>C | ENSP00000450942.1:p.Val65Ala | |
| ENST00000554944.5:n.224T>C | ||
| ENST00000555020.5:n.224T>C | ||
| ENST00000555086.5:n.198T>C | ||
| ENST00000555214.5:n.203T>C | ||
| ENST00000556157.1:n.301T>C | ||
| ENST00000556244.1:c.78T>C | ||
| ENST00000556278.1:c.194T>C | ENSP00000451792.1:p.Val65Ala | |
| ENST00000556403.5:n.207T>C | ||
| ENST00000556494.5:n.226T>C | ||
| ENST00000557541.5:n.387T>C | ||
| ENST00000557706.5:n.308T>C | ||
| NM_000155.3:c.194T>C | NP_000146.2:p.Val65Ala | |
| NM_001258332.1:c.-9T>C | NP_001245261.1:n.-9T>C | |
| NM_000155.4:c.194T>C MANE Select | NP_000146.2:p.Val65Ala | |
| NM_001258332.2:c.-9T>C | NP_001245261.1:n.-9T>C |