Linked Data
ClinVar Variation Id:
55256
ClinVar RCV Id:
RCV000048623
RCV000077582
RCV000131822
RCV000414441
RCV000225764
RCV000762997
RCV000735555
dbSNP Id:
rs80358044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074330C>T , CM000679.2:g.43074330C>T | GRCh38 |
| NC_000017.10:g.41226347C>T , CM000679.1:g.41226347C>T | GRCh37 |
| NC_000017.9:g.38479873C>T | NCBI36 |
| NG_005905.2:g.143654G>A , LRG_292:g.143654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4672+1G>A | ENSP00000417241.2:n.4672+1G>A | |
| ENST00000470026.6:c.4675+1G>A | ENSP00000419274.2:n.4675+1G>A | |
| ENST00000473961.6:c.4549+1G>A | ENSP00000420201.2:n.4549+1G>A | |
| ENST00000476777.6:c.4669+1G>A | ENSP00000417554.2:n.4669+1G>A | |
| ENST00000477152.6:c.4597+1G>A | ENSP00000419988.2:n.4597+1G>A | |
| ENST00000478531.6:c.1363+1G>A | ENSP00000420412.2:n.1363+1G>A | |
| ENST00000489037.2:c.4597+1G>A | ENSP00000420781.2:n.4597+1G>A | |
| ENST00000493919.6:c.1225+1G>A | ENSP00000418819.2:n.1225+1G>A | |
| ENST00000494123.6:c.4675+1G>A | ENSP00000419103.2:n.4675+1G>A | |
| ENST00000497488.2:c.3787+1G>A | ENSP00000418986.2:n.3787+1G>A | |
| ENST00000618469.2:c.4675+1G>A | ENSP00000478114.2:n.4675+1G>A | |
| ENST00000634433.2:c.4552+1G>A | ENSP00000489431.2:n.4552+1G>A | |
| ENST00000644379.2:c.4741+1G>A | ENSP00000496570.2:n.4741+1G>A | |
| ENST00000644555.2:c.1225+1G>A | ENSP00000494614.2:n.1225+1G>A | |
| ENST00000652672.2:c.4534+1G>A | ENSP00000498906.2:n.4534+1G>A | |
| ENST00000484087.6:c.1237+1G>A | ENSP00000419481.2:n.1237+1G>A | |
| ENST00000700182.1:c.1282+1G>A | ENSP00000514849.1:n.1282+1G>A | |
| ENST00000357654.9:c.4675+1G>A MANE Select | ENSP00000350283.3:n.4675+1G>A | |
| ENST00000471181.7:c.4738+1G>A | ENSP00000418960.2:n.4738+1G>A | |
| ENST00000644379.1:c.1062+1G>A | ||
| ENST00000352993.7:c.1249+1G>A | ENSP00000312236.5:n.1249+1G>A | |
| ENST00000357654.7:c.4675+1G>A | ENSP00000350283.3:n.4675+1G>A | |
| ENST00000461221.5:c.*4458+1G>A | ENSP00000418548.1:n.*4458+1G>A | |
| ENST00000468300.5:c.1363+1G>A | ENSP00000417148.1:n.1363+1G>A | |
| ENST00000471181.6:c.4738+1G>A | ENSP00000418960.2:n.4738+1G>A | |
| ENST00000478531.5:c.1363+1G>A | ENSP00000420412.1:n.1363+1G>A | |
| ENST00000484087.5:c.988+1G>A | ENSP00000419481.1:n.988+1G>A | |
| ENST00000491747.6:c.1363+1G>A | ENSP00000420705.2:n.1363+1G>A | |
| ENST00000493795.5:c.4534+1G>A | ENSP00000418775.1:n.4534+1G>A | |
| ENST00000493919.5:c.1225+1G>A | ENSP00000418819.1:n.1225+1G>A | |
| ENST00000586385.5:c.5-10379G>A | ENSP00000465818.1:n.5-10379G>A | |
| ENST00000591534.5:c.148+1G>A | ENSP00000467329.1:n.148+1G>A | |
| ENST00000591849.5:c.-98-24140G>A | ENSP00000465347.1:n.-98-24140G>A | |
| NM_007294.3:c.4675+1G>A , LRG_292t1:c.4675+1G>A | NP_009225.1:n.4675+1G>A | |
| NM_007297.3:c.4534+1G>A | NP_009228.2:n.4534+1G>A | |
| NM_007298.3:c.1363+1G>A | NP_009229.2:n.1363+1G>A | |
| NM_007299.3:c.1363+1G>A | NP_009230.2:n.1363+1G>A | |
| NM_007300.3:c.4738+1G>A | NP_009231.2:n.4738+1G>A | |
| NR_027676.1:n.4811+1G>A | ||
| NM_007294.4:c.4675+1G>A MANE Select | NP_009225.1:n.4675+1G>A | |
| NM_007297.4:c.4534+1G>A | NP_009228.2:n.4534+1G>A | |
| NM_007299.4:c.1363+1G>A | NP_009230.2:n.1363+1G>A | |
| NM_007300.4:c.4738+1G>A | NP_009231.2:n.4738+1G>A | |
| NR_027676.2:n.4852+1G>A |