Linked Data
ClinVar Variation Id:
752573
ClinVar RCV Id:
RCV001428790
dbSNP Id:
rs1554425781
MyVariant Identifiers:
chr7:g.150648645C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951557C>A , CM000669.2:g.150951557C>A | GRCh38 |
| NC_000007.13:g.150648645C>A , CM000669.1:g.150648645C>A | GRCh37 |
| NC_000007.12:g.150279578C>A | NCBI36 |
| NG_008916.1:g.31370G>T , LRG_288:g.31370G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1134G>T | ||
| ENST00000684241.1:n.2669G>T | ||
| ENST00000262186.10:c.1836G>T MANE Select | ENSP00000262186.5:p.Val612= | |
| ENST00000330883.9:c.816G>T | ENSP00000328531.4:p.Val272= | |
| ENST00000262186.9:c.1836G>T | ENSP00000262186.5:p.Val612= | |
| ENST00000330883.8:c.816G>T | ENSP00000328531.4:p.Val272= | |
| ENST00000430723.4:c.1488G>T | ENSP00000387657.4:p.Val496= | |
| ENST00000461280.1:n.1123G>T | ||
| ENST00000473610.5:n.1141G>T | ||
| ENST00000532957.5:n.2059G>T | ||
| NM_000238.3:c.1836G>T , LRG_288t1:c.1836G>T | NP_000229.1:p.Val612= | |
| NM_001204798.1:c.816G>T | NP_001191727.1:p.Val272= | |
| NM_172056.2:c.1836G>T , LRG_288t2:c.1836G>T | NP_742053.1:p.Val612= | |
| NM_172057.2:c.816G>T , LRG_288t3:c.816G>T | NP_742054.1:p.Val272= | |
| XM_011516185.1:c.1536G>T | XP_011514487.1:p.Val512= | |
| XM_011516186.1:c.1836G>T | XP_011514488.1:p.Val612= | |
| XM_011516185.2:c.1536G>T | XP_011514487.1:p.Val512= | |
| XM_011516186.3:c.1836G>T | XP_011514488.1:p.Val612= | |
| XM_017012195.1:c.1686G>T | XP_016867684.1:p.Val562= | |
| XM_017012196.1:c.1659G>T | XP_016867685.1:p.Val553= | |
| NM_000238.4:c.1836G>T MANE Select | NP_000229.1:p.Val612= | |
| NM_001204798.2:c.816G>T | NP_001191727.1:p.Val272= | |
| NM_172057.3:c.816G>T | NP_742054.1:p.Val272= |