Linked Data
ClinVar Variation Id:
2919313
ClinVar RCV Id:
RCV003609980
dbSNP Id:
rs1392743145
gnomAD v4:
9-34647476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647476C>T , CM000671.2:g.34647476C>T | GRCh38 |
| NC_000009.11:g.34647473C>T , CM000671.1:g.34647473C>T | GRCh37 |
| NC_000009.10:g.34637473C>T | NCBI36 |
| NG_009029.1:g.5839C>T | |
| NG_028966.1:g.292C>T | |
| NG_009029.2:g.5888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.253-16C>T | ENSP00000509954.1:n.253-16C>T | |
| ENST00000378842.8:c.253-16C>T MANE Select | ENSP00000368119.4:n.253-16C>T | |
| ENST00000378842.7:c.253-16C>T | ENSP00000368119.3:n.253-16C>T | |
| ENST00000450095.6:c.50+218C>T | ENSP00000401956.2:n.50+218C>T | |
| ENST00000465543.6:n.592-16C>T | ||
| ENST00000468099.2:n.510C>T | ||
| ENST00000472111.5:n.294-16C>T | ||
| ENST00000473506.6:c.253-65C>T | ENSP00000432839.2:n.253-65C>T | |
| ENST00000473529.5:n.300-16C>T | ||
| ENST00000485531.1:n.463C>T | ||
| ENST00000487381.5:n.496C>T | ||
| ENST00000489643.6:n.282+218C>T | ||
| ENST00000554085.5:c.254C>T | ENSP00000450419.1:p.Pro85Leu | |
| ENST00000554139.5:n.306-16C>T | ||
| ENST00000554330.5:n.250-65C>T | ||
| ENST00000554550.5:c.252+218C>T | ENSP00000451435.1:n.252+218C>T | |
| ENST00000554638.5:n.494C>T | ||
| ENST00000554897.5:c.252+218C>T | ENSP00000450942.1:n.252+218C>T | |
| ENST00000554944.5:n.283-65C>T | ||
| ENST00000555020.5:n.283-16C>T | ||
| ENST00000555086.5:n.257-16C>T | ||
| ENST00000555214.5:n.261+218C>T | ||
| ENST00000556157.1:n.361C>T | ||
| ENST00000556244.1:c.224C>T | ||
| ENST00000556278.1:c.252+218C>T | ENSP00000451792.1:n.252+218C>T | |
| ENST00000556403.5:n.266-16C>T | ||
| ENST00000556494.5:n.285-16C>T | ||
| ENST00000557541.5:n.446-65C>T | ||
| ENST00000557706.5:n.584C>T | ||
| NM_000155.3:c.253-16C>T | NP_000146.2:n.253-16C>T | |
| NM_001258332.1:c.50+218C>T | NP_001245261.1:n.50+218C>T | |
| NM_000155.4:c.253-16C>T MANE Select | NP_000146.2:n.253-16C>T | |
| NM_001258332.2:c.50+218C>T | NP_001245261.1:n.50+218C>T |