Linked Data
ClinVar Variation Id:
178367
dbSNP Id:
rs141701016
ExAC:
5:90072399 G / T
gnomAD v2:
5-90072399-G-T
gnomAD v3:
5-90776582-G-T
gnomAD v4:
5-90776582-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90776582G>T , CM000667.2:g.90776582G>T | GRCh38 |
| NC_000005.9:g.90072399G>T , CM000667.1:g.90072399G>T | GRCh37 |
| NC_000005.8:g.90108155G>T | NCBI36 |
| NG_007083.1:g.222783G>T | |
| NG_007083.2:g.252239G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12527+6G>T MANE Select | ENSP00000384582.2:n.12527+6G>T | |
| ENST00000425867.3:c.1481+6G>T | ENSP00000392618.3:n.1481+6G>T | |
| ENST00000639431.1:c.265+100373G>T | ENSP00000491057.1:n.265+100373G>T | |
| ENST00000640464.1:n.2946+6G>T | ||
| ENST00000640729.1:n.1104+6G>T | ||
| ENST00000405460.6:c.12527+6G>T | ENSP00000384582.2:n.12527+6G>T | |
| NM_032119.3:c.12527+6G>T | NP_115495.3:n.12527+6G>T | |
| NR_003149.1:n.12540+6G>T | ||
| XM_011543675.1:c.12524+6G>T | XP_011541977.1:n.12524+6G>T | |
| XM_011543676.1:c.12446+6G>T | XP_011541978.1:n.12446+6G>T | |
| XM_011543677.1:c.9830+6G>T | XP_011541979.1:n.9830+6G>T | |
| XM_011543678.1:c.12527+6G>T | XP_011541980.1:n.12527+6G>T | |
| NM_032119.4:c.12527+6G>T MANE Select | NP_115495.3:n.12527+6G>T | |
| XM_017009963.2:c.12548+6G>T | XP_016865452.1:n.12548+6G>T | |
| XM_017009964.2:c.12545+6G>T | XP_016865453.1:n.12545+6G>T | |
| XM_017009965.1:c.12545+6G>T | XP_016865454.1:n.12545+6G>T | |
| XM_017009966.2:c.12467+6G>T | XP_016865455.1:n.12467+6G>T | |
| XM_017009967.1:c.12452+6G>T | XP_016865456.1:n.12452+6G>T | |
| XM_017009968.2:c.12548+6G>T | XP_016865457.1:n.12548+6G>T | |
| XM_017009969.2:c.12548+6G>T | XP_016865458.1:n.12548+6G>T | |
| XM_017009970.2:c.12548+6G>T | XP_016865459.1:n.12548+6G>T | |
| XM_017009971.2:c.12548+6G>T | XP_016865460.1:n.12548+6G>T | |
| XM_017009972.1:c.5666+6G>T | XP_016865461.1:n.5666+6G>T | |
| XM_017009973.1:c.5645+6G>T | XP_016865462.1:n.5645+6G>T | |
| NR_003149.2:n.12543+6G>T |