Linked Data
ClinVar Variation Id:
1101059
ClinVar RCV Id:
RCV001423876
dbSNP Id:
rs111033787
gnomAD v3:
9-34649456-G-A
gnomAD v4:
9-34649456-G-A
MyVariant Identifiers:
chr9:g.34649453G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649456G>A , CM000671.2:g.34649456G>A | GRCh38 |
| NC_000009.11:g.34649453G>A , CM000671.1:g.34649453G>A | GRCh37 |
| NC_000009.10:g.34639453G>A | NCBI36 |
| NG_009029.1:g.7819G>A | |
| NG_028966.1:g.2272G>A | |
| NG_009029.2:g.7868G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*539G>A | ENSP00000509954.1:n.*539G>A | |
| ENST00000378842.8:c.951G>A MANE Select | ENSP00000368119.4:p.Gln317= | |
| ENST00000378842.7:c.951G>A | ENSP00000368119.3:p.Gln317= | |
| ENST00000450095.6:c.624G>A | ENSP00000401956.2:p.Gln208= | |
| ENST00000488412.2:n.535G>A | ||
| ENST00000489643.6:n.1359G>A | ||
| ENST00000554550.5:c.*571G>A | ENSP00000451435.1:n.*571G>A | |
| ENST00000554638.5:n.1423G>A | ||
| ENST00000555020.5:n.1740G>A | ||
| ENST00000555754.1:n.399G>A | ||
| ENST00000556278.1:c.432+1000G>A | ENSP00000451792.1:n.432+1000G>A | |
| ENST00000557706.5:n.1526G>A | ||
| NM_000155.3:c.951G>A | NP_000146.2:p.Gln317= | |
| NM_001258332.1:c.624G>A | NP_001245261.1:p.Gln208= | |
| NM_000155.4:c.951G>A MANE Select | NP_000146.2:p.Gln317= | |
| NM_001258332.2:c.624G>A | NP_001245261.1:p.Gln208= |