Linked Data
ClinVar Variation Id:
37450
ClinVar RCV Id:
RCV000031031
RCV000047726
RCV000131900
RCV000167772
RCV000505888
RCV000785201
RCV001270969
RCV002504839
dbSNP Id:
rs80358163
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43104968T>C , CM000679.2:g.43104968T>C | GRCh38 |
| NC_000017.10:g.41256985T>C , CM000679.1:g.41256985T>C | GRCh37 |
| NC_000017.9:g.38510511T>C | NCBI36 |
| NG_005905.2:g.113016A>G , LRG_292:g.113016A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.277-12A>G | ||
| ENST00000461574.2:c.213-12A>G | ENSP00000417241.2:n.213-12A>G | |
| ENST00000470026.6:c.213-12A>G | ENSP00000419274.2:n.213-12A>G | |
| ENST00000473961.6:c.213-12A>G | ENSP00000420201.2:n.213-12A>G | |
| ENST00000476777.6:c.213-12A>G | ENSP00000417554.2:n.213-12A>G | |
| ENST00000477152.6:c.135-12A>G | ENSP00000419988.2:n.135-12A>G | |
| ENST00000478531.6:c.213-12A>G | ENSP00000420412.2:n.213-12A>G | |
| ENST00000489037.2:c.135-12A>G | ENSP00000420781.2:n.135-12A>G | |
| ENST00000493919.6:c.72-12A>G | ENSP00000418819.2:n.72-12A>G | |
| ENST00000494123.6:c.213-12A>G | ENSP00000419103.2:n.213-12A>G | |
| ENST00000497488.2:c.-218-10108A>G | ENSP00000418986.2:n.-218-10108A>G | |
| ENST00000618469.2:c.213-12A>G | ENSP00000478114.2:n.213-12A>G | |
| ENST00000634433.2:c.213-12A>G | ENSP00000489431.2:n.213-12A>G | |
| ENST00000644379.2:c.213-12A>G | ENSP00000496570.2:n.213-12A>G | |
| ENST00000644555.2:c.72-12A>G | ENSP00000494614.2:n.72-12A>G | |
| ENST00000652672.2:c.72-12A>G | ENSP00000498906.2:n.72-12A>G | |
| ENST00000484087.6:c.213-12A>G | ENSP00000419481.2:n.213-12A>G | |
| ENST00000700083.1:n.1172A>G | ||
| ENST00000700182.1:c.135-12A>G | ENSP00000514849.1:n.135-12A>G | |
| ENST00000700183.1:c.*127-12A>G | ENSP00000514850.1:n.*127-12A>G | |
| ENST00000700184.1:n.456-12A>G | ||
| ENST00000357654.9:c.213-12A>G MANE Select | ENSP00000350283.3:n.213-12A>G | |
| ENST00000471181.7:c.213-12A>G | ENSP00000418960.2:n.213-12A>G | |
| ENST00000642945.1:c.*87-12A>G | ENSP00000495897.1:n.*87-12A>G | |
| ENST00000644555.1:c.72-12A>G | ENSP00000494614.1:n.72-12A>G | |
| ENST00000652672.1:c.72-12A>G | ENSP00000498906.1:n.72-12A>G | |
| ENST00000352993.7:c.213-12A>G | ENSP00000312236.5:n.213-12A>G | |
| ENST00000354071.7:c.213-12A>G | ENSP00000326002.7:n.213-12A>G | |
| ENST00000357654.7:c.213-12A>G | ENSP00000350283.3:n.213-12A>G | |
| ENST00000461221.5:c.191-12A>G | ENSP00000418548.1:n.191-12A>G | |
| ENST00000461798.5:c.191-12A>G | ENSP00000417988.1:n.191-12A>G | |
| ENST00000468300.5:c.213-12A>G | ENSP00000417148.1:n.213-12A>G | |
| ENST00000470026.5:c.213-12A>G | ENSP00000419274.1:n.213-12A>G | |
| ENST00000471181.6:c.213-12A>G | ENSP00000418960.2:n.213-12A>G | |
| ENST00000476777.5:c.213-12A>G | ENSP00000417554.1:n.213-12A>G | |
| ENST00000477152.5:c.135-12A>G | ENSP00000419988.1:n.135-12A>G | |
| ENST00000478531.5:c.213-12A>G | ENSP00000420412.1:n.213-12A>G | |
| ENST00000489037.1:c.135-12A>G | ENSP00000420781.1:n.135-12A>G | |
| ENST00000491747.6:c.213-12A>G | ENSP00000420705.2:n.213-12A>G | |
| ENST00000492859.5:c.*149-12A>G | ENSP00000420253.1:n.*149-12A>G | |
| ENST00000493795.5:c.72-12A>G | ENSP00000418775.1:n.72-12A>G | |
| ENST00000493919.5:c.72-12A>G | ENSP00000418819.1:n.72-12A>G | |
| ENST00000494123.5:c.213-12A>G | ENSP00000419103.1:n.213-12A>G | |
| ENST00000497488.1:c.-218-10108A>G | ENSP00000418986.1:n.-218-10108A>G | |
| ENST00000586385.5:c.4+20214A>G | ENSP00000465818.1:n.4+20214A>G | |
| ENST00000591534.5:c.-44+20303A>G | ENSP00000467329.1:n.-44+20303A>G | |
| ENST00000591849.5:c.-99+20303A>G | ENSP00000465347.1:n.-99+20303A>G | |
| ENST00000634433.1:c.213-12A>G | ENSP00000489431.1:n.213-12A>G | |
| NM_007294.3:c.213-12A>G , LRG_292t1:c.213-12A>G | NP_009225.1:n.213-12A>G | |
| NM_007297.3:c.72-12A>G | NP_009228.2:n.72-12A>G | |
| NM_007298.3:c.213-12A>G | NP_009229.2:n.213-12A>G | |
| NM_007299.3:c.213-12A>G | NP_009230.2:n.213-12A>G | |
| NM_007300.3:c.213-12A>G | NP_009231.2:n.213-12A>G | |
| NR_027676.1:n.352-12A>G | ||
| NM_007294.4:c.213-12A>G MANE Select | NP_009225.1:n.213-12A>G | |
| NM_007297.4:c.72-12A>G | NP_009228.2:n.72-12A>G | |
| NM_007299.4:c.213-12A>G | NP_009230.2:n.213-12A>G | |
| NM_007300.4:c.213-12A>G | NP_009231.2:n.213-12A>G | |
| NR_027676.2:n.393-12A>G |