Linked Data
ClinVar Variation Id:
505601
dbSNP Id:
rs563519322
gnomAD v2:
5-90085675-C-T
gnomAD v3:
5-90789858-C-T
gnomAD v4:
5-90789858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90789858C>T , CM000667.2:g.90789858C>T | GRCh38 |
| NC_000005.9:g.90085675C>T , CM000667.1:g.90085675C>T | GRCh37 |
| NC_000005.8:g.90121431C>T | NCBI36 |
| NG_007083.1:g.236059C>T | |
| NG_007083.2:g.265515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14043+7C>T MANE Select | ENSP00000384582.2:n.14043+7C>T | |
| ENST00000425867.3:c.2997+7C>T | ENSP00000392618.3:n.2997+7C>T | |
| ENST00000638510.1:n.1310+7C>T | ||
| ENST00000638975.1:c.672+7C>T | ENSP00000492630.1:n.672+7C>T | |
| ENST00000639431.1:c.265+113649C>T | ENSP00000491057.1:n.265+113649C>T | |
| ENST00000640407.1:c.453+7C>T | ENSP00000491425.1:n.453+7C>T | |
| ENST00000405460.6:c.14043+7C>T | ENSP00000384582.2:n.14043+7C>T | |
| ENST00000425867.2:c.1026+7C>T | ENSP00000392618.2:n.1026+7C>T | |
| NM_032119.3:c.14043+7C>T | NP_115495.3:n.14043+7C>T | |
| NR_003149.1:n.14056+7C>T | ||
| XM_011543675.1:c.14040+7C>T | XP_011541977.1:n.14040+7C>T | |
| XM_011543676.1:c.13962+7C>T | XP_011541978.1:n.13962+7C>T | |
| XM_011543677.1:c.11346+7C>T | XP_011541979.1:n.11346+7C>T | |
| XM_011543678.1:c.14043+7C>T | XP_011541980.1:n.14043+7C>T | |
| NM_032119.4:c.14043+7C>T MANE Select | NP_115495.3:n.14043+7C>T | |
| XM_017009963.2:c.14064+7C>T | XP_016865452.1:n.14064+7C>T | |
| XM_017009964.2:c.14061+7C>T | XP_016865453.1:n.14061+7C>T | |
| XM_017009965.1:c.14061+7C>T | XP_016865454.1:n.14061+7C>T | |
| XM_017009966.2:c.13983+7C>T | XP_016865455.1:n.13983+7C>T | |
| XM_017009967.1:c.13968+7C>T | XP_016865456.1:n.13968+7C>T | |
| XM_017009968.2:c.14064+7C>T | XP_016865457.1:n.14064+7C>T | |
| XM_017009969.2:c.14064+7C>T | XP_016865458.1:n.14064+7C>T | |
| XM_017009970.2:c.14064+7C>T | XP_016865459.1:n.14064+7C>T | |
| XM_017009971.2:c.14064+7C>T | XP_016865460.1:n.14064+7C>T | |
| XM_017009972.1:c.7182+7C>T | XP_016865461.1:n.7182+7C>T | |
| XM_017009973.1:c.7161+7C>T | XP_016865462.1:n.7161+7C>T | |
| NR_003149.2:n.14059+7C>T |