Linked Data
ClinVar Variation Id:
2675825
ClinVar RCV Id:
RCV003468248
dbSNP Id:
rs111033767
gnomAD v4:
9-34648996-A-G
PubMed:
PMID:15841485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648996A>G , CM000671.2:g.34648996A>G | GRCh38 |
| NC_000009.11:g.34648993A>G , CM000671.1:g.34648993A>G | GRCh37 |
| NC_000009.10:g.34638993A>G | NCBI36 |
| NG_009029.1:g.7359A>G | |
| NG_028966.1:g.1812A>G | |
| NG_009029.2:g.7408A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*409-2A>G | ENSP00000509954.1:n.*409-2A>G | |
| ENST00000378842.8:c.821-2A>G MANE Select | ENSP00000368119.4:n.821-2A>G | |
| ENST00000378842.7:c.821-2A>G | ENSP00000368119.3:n.821-2A>G | |
| ENST00000450095.6:c.494-2A>G | ENSP00000401956.2:n.494-2A>G | |
| ENST00000488412.2:n.75A>G | ||
| ENST00000489643.6:n.901-2A>G | ||
| ENST00000554085.5:c.*565-2A>G | ENSP00000450419.1:n.*565-2A>G | |
| ENST00000554550.5:c.*441-2A>G | ENSP00000451435.1:n.*441-2A>G | |
| ENST00000554638.5:n.1293-2A>G | ||
| ENST00000555020.5:n.1282-2A>G | ||
| ENST00000555086.5:n.926A>G | ||
| ENST00000555754.1:n.267A>G | ||
| ENST00000556278.1:c.432+540A>G | ENSP00000451792.1:n.432+540A>G | |
| ENST00000557706.5:n.1396-2A>G | ||
| NM_000155.3:c.821-2A>G | NP_000146.2:n.821-2A>G | |
| NM_001258332.1:c.494-2A>G | NP_001245261.1:n.494-2A>G | |
| NM_000155.4:c.821-2A>G MANE Select | NP_000146.2:n.821-2A>G | |
| NM_001258332.2:c.494-2A>G | NP_001245261.1:n.494-2A>G |