Linked Data
ClinVar Variation Id:
3052955
ClinVar RCV Id:
RCV003971657
dbSNP Id:
rs201235540
ExAC:
10:101667744 G / A
gnomAD v2:
10-101667744-G-A
gnomAD v3:
10-99907987-G-A
gnomAD v4:
10-99907987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99907987G>A , CM000672.2:g.99907987G>A | GRCh38 |
| NC_000010.10:g.101667744G>A , CM000672.1:g.101667744G>A | GRCh37 |
| NC_000010.9:g.101657734G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324109.9:c.2554+8C>T MANE Select | ENSP00000315659.4:n.2554+8C>T | |
| ENST00000543621.6:c.418+8C>T | ENSP00000443657.2:n.418+8C>T | |
| ENST00000636706.1:c.1450+8C>T | ENSP00000489875.1:n.1450+8C>T | |
| ENST00000324109.8:c.2554+8C>T | ENSP00000315659.4:n.2554+8C>T | |
| ENST00000422692.1:c.418+8C>T | ENSP00000409476.1:n.418+8C>T | |
| ENST00000543621.5:c.292+8C>T | ENSP00000443657.1:n.292+8C>T | |
| NM_015221.2:c.2554+8C>T | NP_056036.1:n.2554+8C>T | |
| XM_006717735.2:c.2554+8C>T | XP_006717798.1:n.2554+8C>T | |
| XM_006717736.2:c.2554+8C>T | XP_006717799.1:n.2554+8C>T | |
| XM_011539559.1:c.2554+8C>T | XP_011537861.1:n.2554+8C>T | |
| XM_011539560.1:c.1450+8C>T | XP_011537862.1:n.1450+8C>T | |
| NM_001318326.1:c.1450+8C>T | NP_001305255.1:n.1450+8C>T | |
| NM_001318327.1:c.418+8C>T | NP_001305256.1:n.418+8C>T | |
| NM_015221.3:c.2554+8C>T | NP_056036.1:n.2554+8C>T | |
| XM_006717735.3:c.2554+8C>T | XP_006717798.1:n.2554+8C>T | |
| XM_011539559.2:c.2554+8C>T | XP_011537861.1:n.2554+8C>T | |
| NM_015221.4:c.2554+8C>T MANE Select | NP_056036.1:n.2554+8C>T | |
| NM_001318326.2:c.1450+8C>T | NP_001305255.1:n.1450+8C>T |