Linked Data
ClinVar Variation Id:
2879123
ClinVar RCV Id:
RCV003710520
MyVariant Identifiers:
chr5:g.90059169G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763352G>A , CM000667.2:g.90763352G>A | GRCh38 |
| NC_000005.9:g.90059169G>A , CM000667.1:g.90059169G>A | GRCh37 |
| NC_000005.8:g.90094925G>A | NCBI36 |
| NG_007083.1:g.209553G>A | |
| NG_007083.2:g.239009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12168G>A MANE Select | ENSP00000384582.2:p.Val4056= | |
| ENST00000425867.3:c.1122G>A | ENSP00000392618.3:p.Val374= | |
| ENST00000639431.1:c.265+87143G>A | ENSP00000491057.1:n.265+87143G>A | |
| ENST00000640464.1:n.2587G>A | ||
| ENST00000640729.1:n.745G>A | ||
| ENST00000405460.6:c.12168G>A | ENSP00000384582.2:p.Val4056= | |
| NM_032119.3:c.12168G>A | NP_115495.3:p.Val4056= | |
| NR_003149.1:n.12181G>A | ||
| XM_011543675.1:c.12165G>A | XP_011541977.1:p.Val4055= | |
| XM_011543676.1:c.12087G>A | XP_011541978.1:p.Val4029= | |
| XM_011543677.1:c.9471G>A | XP_011541979.1:p.Val3157= | |
| XM_011543678.1:c.12168G>A | XP_011541980.1:p.Val4056= | |
| NM_032119.4:c.12168G>A MANE Select | NP_115495.3:p.Val4056= | |
| XM_017009963.2:c.12189G>A | XP_016865452.1:p.Val4063= | |
| XM_017009964.2:c.12186G>A | XP_016865453.1:p.Val4062= | |
| XM_017009965.1:c.12186G>A | XP_016865454.1:p.Val4062= | |
| XM_017009966.2:c.12108G>A | XP_016865455.1:p.Val4036= | |
| XM_017009967.1:c.12093G>A | XP_016865456.1:p.Val4031= | |
| XM_017009968.2:c.12189G>A | XP_016865457.1:p.Val4063= | |
| XM_017009969.2:c.12189G>A | XP_016865458.1:p.Val4063= | |
| XM_017009970.2:c.12189G>A | XP_016865459.1:p.Val4063= | |
| XM_017009971.2:c.12189G>A | XP_016865460.1:p.Val4063= | |
| XM_017009972.1:c.5307G>A | XP_016865461.1:p.Val1769= | |
| XM_017009973.1:c.5286G>A | XP_016865462.1:p.Val1762= | |
| NR_003149.2:n.12184G>A |