Linked Data
ClinVar Variation Id:
1331081
ClinVar RCV Id:
RCV001802740
dbSNP Id:
rs981018740
gnomAD v2:
9-34647236-C-T
gnomAD v4:
9-34647239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647239C>T , CM000671.2:g.34647239C>T | GRCh38 |
| NC_000009.11:g.34647236C>T , CM000671.1:g.34647236C>T | GRCh37 |
| NC_000009.10:g.34637236C>T | NCBI36 |
| NG_009029.1:g.5602C>T | |
| NG_028966.1:g.55C>T | |
| NG_009029.2:g.5651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.233C>T | ENSP00000509954.1:p.Ala78Val | |
| ENST00000378842.8:c.233C>T MANE Select | ENSP00000368119.4:p.Ala78Val | |
| ENST00000378842.7:c.233C>T | ENSP00000368119.3:p.Ala78Val | |
| ENST00000450095.6:c.31C>T | ENSP00000401956.2:p.Pro11Ser | |
| ENST00000465543.6:n.572C>T | ||
| ENST00000468099.2:n.273C>T | ||
| ENST00000472111.5:n.274C>T | ||
| ENST00000473506.6:c.233C>T | ENSP00000432839.2:p.Ala78Val | |
| ENST00000473529.5:n.280C>T | ||
| ENST00000485531.1:n.226C>T | ||
| ENST00000487381.5:n.259C>T | ||
| ENST00000489643.6:n.263C>T | ||
| ENST00000554085.5:c.233C>T | ENSP00000450419.1:p.Ala78Val | |
| ENST00000554139.5:n.286C>T | ||
| ENST00000554330.5:n.230C>T | ||
| ENST00000554550.5:c.233C>T | ENSP00000451435.1:p.Ala78Val | |
| ENST00000554638.5:n.257C>T | ||
| ENST00000554897.5:c.233C>T | ENSP00000450942.1:p.Ala78Val | |
| ENST00000554944.5:n.263C>T | ||
| ENST00000555020.5:n.263C>T | ||
| ENST00000555086.5:n.237C>T | ||
| ENST00000555214.5:n.242C>T | ||
| ENST00000556157.1:n.340C>T | ||
| ENST00000556244.1:c.117C>T | ||
| ENST00000556278.1:c.233C>T | ENSP00000451792.1:p.Ala78Val | |
| ENST00000556403.5:n.246C>T | ||
| ENST00000556494.5:n.265C>T | ||
| ENST00000557541.5:n.426C>T | ||
| ENST00000557706.5:n.347C>T | ||
| NM_000155.3:c.233C>T | NP_000146.2:p.Ala78Val | |
| NM_001258332.1:c.31C>T | NP_001245261.1:p.Pro11Ser | |
| NM_000155.4:c.233C>T MANE Select | NP_000146.2:p.Ala78Val | |
| NM_001258332.2:c.31C>T | NP_001245261.1:p.Pro11Ser |