Linked Data
gnomAD v2:
9-34648159-C-G
gnomAD v3:
9-34648162-C-G
gnomAD v4:
9-34648162-C-G
MyVariant Identifiers:
chr9:g.34648159C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648162C>G , CM000671.2:g.34648162C>G | GRCh38 |
| NC_000009.11:g.34648159C>G , CM000671.1:g.34648159C>G | GRCh37 |
| NC_000009.10:g.34638159C>G | NCBI36 |
| NG_009029.1:g.6525C>G | |
| NG_028966.1:g.978C>G | |
| NG_009029.2:g.6574C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*143C>G | ENSP00000509954.1:n.*143C>G | |
| ENST00000378842.8:c.555C>G MANE Select | ENSP00000368119.4:p.Pro185= | |
| ENST00000378842.7:c.555C>G | ENSP00000368119.3:p.Pro185= | |
| ENST00000450095.6:c.228C>G | ENSP00000401956.2:p.Pro76= | |
| ENST00000465543.6:n.894C>G | ||
| ENST00000472111.5:n.811C>G | ||
| ENST00000473506.6:c.*143C>G | ENSP00000432839.2:n.*143C>G | |
| ENST00000473529.5:n.714C>G | ||
| ENST00000485531.1:n.1149C>G | ||
| ENST00000487381.5:n.940C>G | ||
| ENST00000489643.6:n.330C>G | ||
| ENST00000554085.5:c.*299C>G | ENSP00000450419.1:n.*299C>G | |
| ENST00000554139.5:n.801C>G | ||
| ENST00000554550.5:c.*175C>G | ENSP00000451435.1:n.*175C>G | |
| ENST00000554638.5:n.1027C>G | ||
| ENST00000554897.5:c.*242C>G | ENSP00000450942.1:n.*242C>G | |
| ENST00000554944.5:n.904C>G | ||
| ENST00000555020.5:n.711C>G | ||
| ENST00000555086.5:n.559C>G | ||
| ENST00000555214.5:n.376C>G | ||
| ENST00000556244.1:c.542C>G | ||
| ENST00000556278.1:c.300C>G | ENSP00000451792.1:p.Pro100= | |
| ENST00000556494.5:n.676C>G | ||
| ENST00000557706.5:n.1117C>G | ||
| NM_000155.3:c.555C>G | NP_000146.2:p.Pro185= | |
| NM_001258332.1:c.228C>G | NP_001245261.1:p.Pro76= | |
| NM_000155.4:c.555C>G MANE Select | NP_000146.2:p.Pro185= | |
| NM_001258332.2:c.228C>G | NP_001245261.1:p.Pro76= |