Linked Data
ClinVar Variation Id:
1564274
ClinVar RCV Id:
RCV002216587
dbSNP Id:
rs764103663
ExAC:
9:34647470 A / G
gnomAD v2:
9-34647470-A-G
gnomAD v3:
9-34647473-A-G
gnomAD v4:
9-34647473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647473A>G , CM000671.2:g.34647473A>G | GRCh38 |
| NC_000009.11:g.34647470A>G , CM000671.1:g.34647470A>G | GRCh37 |
| NC_000009.10:g.34637470A>G | NCBI36 |
| NG_009029.1:g.5836A>G | |
| NG_028966.1:g.289A>G | |
| NG_009029.2:g.5885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.253-19A>G | ENSP00000509954.1:n.253-19A>G | |
| ENST00000378842.8:c.253-19A>G MANE Select | ENSP00000368119.4:n.253-19A>G | |
| ENST00000378842.7:c.253-19A>G | ENSP00000368119.3:n.253-19A>G | |
| ENST00000450095.6:c.50+215A>G | ENSP00000401956.2:n.50+215A>G | |
| ENST00000465543.6:n.592-19A>G | ||
| ENST00000468099.2:n.507A>G | ||
| ENST00000472111.5:n.294-19A>G | ||
| ENST00000473506.6:c.253-68A>G | ENSP00000432839.2:n.253-68A>G | |
| ENST00000473529.5:n.300-19A>G | ||
| ENST00000485531.1:n.460A>G | ||
| ENST00000487381.5:n.493A>G | ||
| ENST00000489643.6:n.282+215A>G | ||
| ENST00000554085.5:c.253-2A>G | ENSP00000450419.1:n.253-2A>G | |
| ENST00000554139.5:n.306-19A>G | ||
| ENST00000554330.5:n.250-68A>G | ||
| ENST00000554550.5:c.252+215A>G | ENSP00000451435.1:n.252+215A>G | |
| ENST00000554638.5:n.491A>G | ||
| ENST00000554897.5:c.252+215A>G | ENSP00000450942.1:n.252+215A>G | |
| ENST00000554944.5:n.283-68A>G | ||
| ENST00000555020.5:n.283-19A>G | ||
| ENST00000555086.5:n.257-19A>G | ||
| ENST00000555214.5:n.261+215A>G | ||
| ENST00000556157.1:n.360-2A>G | ||
| ENST00000556244.1:c.221A>G | ||
| ENST00000556278.1:c.252+215A>G | ENSP00000451792.1:n.252+215A>G | |
| ENST00000556403.5:n.266-19A>G | ||
| ENST00000556494.5:n.285-19A>G | ||
| ENST00000557541.5:n.446-68A>G | ||
| ENST00000557706.5:n.581A>G | ||
| NM_000155.3:c.253-19A>G | NP_000146.2:n.253-19A>G | |
| NM_001258332.1:c.50+215A>G | NP_001245261.1:n.50+215A>G | |
| NM_000155.4:c.253-19A>G MANE Select | NP_000146.2:n.253-19A>G | |
| NM_001258332.2:c.50+215A>G | NP_001245261.1:n.50+215A>G |