Linked Data
ClinVar Variation Id:
928112
ClinVar RCV Id:
RCV001841150
dbSNP Id:
rs1801154313
MyVariant Identifiers:
chr7:g.150648555G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951467G>T , CM000669.2:g.150951467G>T | GRCh38 |
| NC_000007.13:g.150648555G>T , CM000669.1:g.150648555G>T | GRCh37 |
| NC_000007.12:g.150279488G>T | NCBI36 |
| NG_008916.1:g.31460C>A , LRG_288:g.31460C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1224C>A | ||
| ENST00000683359.1:n.50C>A | ||
| ENST00000684241.1:n.2759C>A | ||
| ENST00000262186.10:c.1926C>A MANE Select | ENSP00000262186.5:p.Ile642= | |
| ENST00000330883.9:c.906C>A | ENSP00000328531.4:p.Ile302= | |
| ENST00000262186.9:c.1926C>A | ENSP00000262186.5:p.Ile642= | |
| ENST00000330883.8:c.906C>A | ENSP00000328531.4:p.Ile302= | |
| ENST00000430723.4:c.1578C>A | ENSP00000387657.4:p.Ile526= | |
| ENST00000461280.1:n.1213C>A | ||
| ENST00000473610.5:n.1231C>A | ||
| ENST00000532957.5:n.2149C>A | ||
| NM_000238.3:c.1926C>A , LRG_288t1:c.1926C>A | NP_000229.1:p.Ile642= | |
| NM_001204798.1:c.906C>A | NP_001191727.1:p.Ile302= | |
| NM_172056.2:c.1926C>A , LRG_288t2:c.1926C>A | NP_742053.1:p.Ile642= | |
| NM_172057.2:c.906C>A , LRG_288t3:c.906C>A | NP_742054.1:p.Ile302= | |
| XM_011516185.1:c.1626C>A | XP_011514487.1:p.Ile542= | |
| XM_011516186.1:c.1926C>A | XP_011514488.1:p.Ile642= | |
| XM_011516185.2:c.1626C>A | XP_011514487.1:p.Ile542= | |
| XM_011516186.3:c.1926C>A | XP_011514488.1:p.Ile642= | |
| XM_017012195.1:c.1776C>A | XP_016867684.1:p.Ile592= | |
| XM_017012196.1:c.1749C>A | XP_016867685.1:p.Ile583= | |
| NM_000238.4:c.1926C>A MANE Select | NP_000229.1:p.Ile642= | |
| NM_001204798.2:c.906C>A | NP_001191727.1:p.Ile302= | |
| NM_172057.3:c.906C>A | NP_742054.1:p.Ile302= |