Linked Data
ClinVar Variation Id:
25146
dbSNP Id:
rs111033669
ExAC:
9:34647526 A / G
gnomAD v2:
9-34647526-A-G
gnomAD v4:
9-34647529-A-G
PubMed:
PMID:15633893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647529A>G , CM000671.2:g.34647529A>G | GRCh38 |
| NC_000009.11:g.34647526A>G , CM000671.1:g.34647526A>G | GRCh37 |
| NC_000009.10:g.34637526A>G | NCBI36 |
| NG_009029.1:g.5892A>G | |
| NG_028966.1:g.345A>G | |
| NG_009029.2:g.5941A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.290A>G | ENSP00000509954.1:p.Asn97Ser | |
| ENST00000378842.8:c.290A>G MANE Select | ENSP00000368119.4:p.Asn97Ser | |
| ENST00000378842.7:c.290A>G | ENSP00000368119.3:p.Asn97Ser | |
| ENST00000450095.6:c.50+271A>G | ENSP00000401956.2:n.50+271A>G | |
| ENST00000465543.6:n.629A>G | ||
| ENST00000472111.5:n.331A>G | ||
| ENST00000473506.6:c.253-12A>G | ENSP00000432839.2:n.253-12A>G | |
| ENST00000473529.5:n.337A>G | ||
| ENST00000485531.1:n.516A>G | ||
| ENST00000487381.5:n.549A>G | ||
| ENST00000489643.6:n.282+271A>G | ||
| ENST00000554085.5:c.*34A>G | ENSP00000450419.1:n.*34A>G | |
| ENST00000554139.5:n.343A>G | ||
| ENST00000554330.5:n.250-12A>G | ||
| ENST00000554550.5:c.252+271A>G | ENSP00000451435.1:n.252+271A>G | |
| ENST00000554638.5:n.547A>G | ||
| ENST00000554897.5:c.252+271A>G | ENSP00000450942.1:n.252+271A>G | |
| ENST00000554944.5:n.283-12A>G | ||
| ENST00000555020.5:n.320A>G | ||
| ENST00000555086.5:n.294A>G | ||
| ENST00000555214.5:n.261+271A>G | ||
| ENST00000556157.1:n.414A>G | ||
| ENST00000556244.1:c.277A>G | ||
| ENST00000556278.1:c.252+271A>G | ENSP00000451792.1:n.252+271A>G | |
| ENST00000556403.5:n.303A>G | ||
| ENST00000556494.5:n.322A>G | ||
| ENST00000557541.5:n.446-12A>G | ||
| ENST00000557706.5:n.637A>G | ||
| NM_000155.3:c.290A>G | NP_000146.2:p.Asn97Ser | |
| NM_001258332.1:c.50+271A>G | NP_001245261.1:n.50+271A>G | |
| NM_000155.4:c.290A>G MANE Select | NP_000146.2:p.Asn97Ser | |
| NM_001258332.2:c.50+271A>G | NP_001245261.1:n.50+271A>G |