Linked Data
ClinVar Variation Id:
2830950
ClinVar RCV Id:
RCV003694272
gnomAD v4:
5-90789818-C-T
MyVariant Identifiers:
chr5:g.90085635C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90789818C>T , CM000667.2:g.90789818C>T | GRCh38 |
| NC_000005.9:g.90085635C>T , CM000667.1:g.90085635C>T | GRCh37 |
| NC_000005.8:g.90121391C>T | NCBI36 |
| NG_007083.1:g.236019C>T | |
| NG_007083.2:g.265475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.14010C>T MANE Select | ENSP00000384582.2:p.Val4670= | |
| ENST00000425867.3:c.2964C>T | ENSP00000392618.3:p.Val988= | |
| ENST00000638510.1:n.1277C>T | ||
| ENST00000638975.1:c.639C>T | ENSP00000492630.1:p.Val213= | |
| ENST00000639431.1:c.265+113609C>T | ENSP00000491057.1:n.265+113609C>T | |
| ENST00000640407.1:c.420C>T | ENSP00000491425.1:p.Val140= | |
| ENST00000405460.6:c.14010C>T | ENSP00000384582.2:p.Val4670= | |
| ENST00000425867.2:c.993C>T | ENSP00000392618.2:p.Val331= | |
| NM_032119.3:c.14010C>T | NP_115495.3:p.Val4670= | |
| NR_003149.1:n.14023C>T | ||
| XM_011543675.1:c.14007C>T | XP_011541977.1:p.Val4669= | |
| XM_011543676.1:c.13929C>T | XP_011541978.1:p.Val4643= | |
| XM_011543677.1:c.11313C>T | XP_011541979.1:p.Val3771= | |
| XM_011543678.1:c.14010C>T | XP_011541980.1:p.Val4670= | |
| NM_032119.4:c.14010C>T MANE Select | NP_115495.3:p.Val4670= | |
| XM_017009963.2:c.14031C>T | XP_016865452.1:p.Val4677= | |
| XM_017009964.2:c.14028C>T | XP_016865453.1:p.Val4676= | |
| XM_017009965.1:c.14028C>T | XP_016865454.1:p.Val4676= | |
| XM_017009966.2:c.13950C>T | XP_016865455.1:p.Val4650= | |
| XM_017009967.1:c.13935C>T | XP_016865456.1:p.Val4645= | |
| XM_017009968.2:c.14031C>T | XP_016865457.1:p.Val4677= | |
| XM_017009969.2:c.14031C>T | XP_016865458.1:p.Val4677= | |
| XM_017009970.2:c.14031C>T | XP_016865459.1:p.Val4677= | |
| XM_017009971.2:c.14031C>T | XP_016865460.1:p.Val4677= | |
| XM_017009972.1:c.7149C>T | XP_016865461.1:p.Val2383= | |
| XM_017009973.1:c.7128C>T | XP_016865462.1:p.Val2376= | |
| NR_003149.2:n.14026C>T |