Linked Data
ClinVar Variation Id:
37565
ClinVar RCV Id:
RCV000031146
RCV000048441
RCV000162871
RCV000195364
RCV000585685
RCV000735546
RCV000790626
RCV001354041
RCV001554315
dbSNP Id:
rs80358178
ExAC:
17:41243451 C / T
gnomAD v2:
17-41243451-C-T
gnomAD v3:
17-43091434-C-T
gnomAD v4:
17-43091434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091434C>T , CM000679.2:g.43091434C>T | GRCh38 |
| NC_000017.10:g.41243451C>T , CM000679.1:g.41243451C>T | GRCh37 |
| NC_000017.9:g.38496977C>T | NCBI36 |
| NG_005905.2:g.126550G>A , LRG_292:g.126550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.4161G>A | ||
| ENST00000461574.2:c.4096+1G>A | ENSP00000417241.2:n.4096+1G>A | |
| ENST00000470026.6:c.4096+1G>A | ENSP00000419274.2:n.4096+1G>A | |
| ENST00000473961.6:c.3970+1G>A | ENSP00000420201.2:n.3970+1G>A | |
| ENST00000476777.6:c.4093+1G>A | ENSP00000417554.2:n.4093+1G>A | |
| ENST00000477152.6:c.4018+1G>A | ENSP00000419988.2:n.4018+1G>A | |
| ENST00000478531.6:c.785-402G>A | ENSP00000420412.2:n.785-402G>A | |
| ENST00000489037.2:c.4018+1G>A | ENSP00000420781.2:n.4018+1G>A | |
| ENST00000493919.6:c.647-402G>A | ENSP00000418819.2:n.647-402G>A | |
| ENST00000494123.6:c.4096+1G>A | ENSP00000419103.2:n.4096+1G>A | |
| ENST00000497488.2:c.3208+1G>A | ENSP00000418986.2:n.3208+1G>A | |
| ENST00000618469.2:c.4096+1G>A | ENSP00000478114.2:n.4096+1G>A | |
| ENST00000634433.2:c.3973+1G>A | ENSP00000489431.2:n.3973+1G>A | |
| ENST00000644379.2:c.4096+1G>A | ENSP00000496570.2:n.4096+1G>A | |
| ENST00000644555.2:c.647-402G>A | ENSP00000494614.2:n.647-402G>A | |
| ENST00000652672.2:c.3955+1G>A | ENSP00000498906.2:n.3955+1G>A | |
| ENST00000484087.6:c.665-402G>A | ENSP00000419481.2:n.665-402G>A | |
| ENST00000700182.1:c.707-402G>A | ENSP00000514849.1:n.707-402G>A | |
| ENST00000357654.9:c.4096+1G>A MANE Select | ENSP00000350283.3:n.4096+1G>A | |
| ENST00000471181.7:c.4096+1G>A | ENSP00000418960.2:n.4096+1G>A | |
| ENST00000644379.1:c.417+1G>A | ||
| ENST00000352993.7:c.671-402G>A | ENSP00000312236.5:n.671-402G>A | |
| ENST00000354071.7:c.4097G>A | ENSP00000326002.7:p.Gly1366Asp | |
| ENST00000357654.7:c.4096+1G>A | ENSP00000350283.3:n.4096+1G>A | |
| ENST00000461221.5:c.*3879+1G>A | ENSP00000418548.1:n.*3879+1G>A | |
| ENST00000461574.1:c.390+1G>A | ||
| ENST00000468300.5:c.788-402G>A | ENSP00000417148.1:n.788-402G>A | |
| ENST00000471181.6:c.4096+1G>A | ENSP00000418960.2:n.4096+1G>A | |
| ENST00000478531.5:c.785-402G>A | ENSP00000420412.1:n.785-402G>A | |
| ENST00000484087.5:c.410-402G>A | ENSP00000419481.1:n.410-402G>A | |
| ENST00000487825.5:c.413-402G>A | ENSP00000418212.1:n.413-402G>A | |
| ENST00000491747.6:c.788-402G>A | ENSP00000420705.2:n.788-402G>A | |
| ENST00000493795.5:c.3955+1G>A | ENSP00000418775.1:n.3955+1G>A | |
| ENST00000493919.5:c.647-402G>A | ENSP00000418819.1:n.647-402G>A | |
| ENST00000586385.5:c.5-27483G>A | ENSP00000465818.1:n.5-27483G>A | |
| ENST00000591534.5:c.-43-16913G>A | ENSP00000467329.1:n.-43-16913G>A | |
| ENST00000591849.5:c.-99+33837G>A | ENSP00000465347.1:n.-99+33837G>A | |
| NM_007294.3:c.4096+1G>A , LRG_292t1:c.4096+1G>A | NP_009225.1:n.4096+1G>A | |
| NM_007297.3:c.3955+1G>A | NP_009228.2:n.3955+1G>A | |
| NM_007298.3:c.788-402G>A | NP_009229.2:n.788-402G>A | |
| NM_007299.3:c.788-402G>A | NP_009230.2:n.788-402G>A | |
| NM_007300.3:c.4096+1G>A | NP_009231.2:n.4096+1G>A | |
| NR_027676.1:n.4232+1G>A | ||
| NM_007294.4:c.4096+1G>A MANE Select | NP_009225.1:n.4096+1G>A | |
| NM_007297.4:c.3955+1G>A | NP_009228.2:n.3955+1G>A | |
| NM_007299.4:c.788-402G>A | NP_009230.2:n.788-402G>A | |
| NM_007300.4:c.4096+1G>A | NP_009231.2:n.4096+1G>A | |
| NR_027676.2:n.4273+1G>A |