Linked Data
ClinVar Variation Id:
70633
dbSNP Id:
rs143011005
ExAC:
7:150648918 G / A
gnomAD v2:
7-150648918-G-A
gnomAD v3:
7-150951830-G-A
gnomAD v4:
7-150951830-G-A
COSMIC:
COSM108324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951830G>A , CM000669.2:g.150951830G>A | GRCh38 |
| NC_000007.13:g.150648918G>A , CM000669.1:g.150648918G>A | GRCh37 |
| NC_000007.12:g.150279851G>A | NCBI36 |
| NG_008916.1:g.31097C>T , LRG_288:g.31097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.861C>T | ||
| ENST00000684116.1:n.456C>T | ||
| ENST00000684241.1:n.2396C>T | ||
| ENST00000262186.10:c.1563C>T MANE Select | ENSP00000262186.5:p.Ile521= | |
| ENST00000330883.9:c.543C>T | ENSP00000328531.4:p.Ile181= | |
| ENST00000262186.9:c.1563C>T | ENSP00000262186.5:p.Ile521= | |
| ENST00000330883.8:c.543C>T | ENSP00000328531.4:p.Ile181= | |
| ENST00000430723.4:c.1215C>T | ENSP00000387657.4:p.Ile405= | |
| ENST00000461280.1:n.850C>T | ||
| ENST00000473610.5:n.868C>T | ||
| ENST00000532957.5:n.1786C>T | ||
| NM_000238.3:c.1563C>T , LRG_288t1:c.1563C>T | NP_000229.1:p.Ile521= | |
| NM_001204798.1:c.543C>T | NP_001191727.1:p.Ile181= | |
| NM_172056.2:c.1563C>T , LRG_288t2:c.1563C>T | NP_742053.1:p.Ile521= | |
| NM_172057.2:c.543C>T , LRG_288t3:c.543C>T | NP_742054.1:p.Ile181= | |
| XM_011516185.1:c.1263C>T | XP_011514487.1:p.Ile421= | |
| XM_011516186.1:c.1563C>T | XP_011514488.1:p.Ile521= | |
| XM_011516185.2:c.1263C>T | XP_011514487.1:p.Ile421= | |
| XM_011516186.3:c.1563C>T | XP_011514488.1:p.Ile521= | |
| XM_017012195.1:c.1413C>T | XP_016867684.1:p.Ile471= | |
| XM_017012196.1:c.1386C>T | XP_016867685.1:p.Ile462= | |
| NM_000238.4:c.1563C>T MANE Select | NP_000229.1:p.Ile521= | |
| NM_001204798.2:c.543C>T | NP_001191727.1:p.Ile181= | |
| NM_172057.3:c.543C>T | NP_742054.1:p.Ile181= |