Linked Data
ClinVar Variation Id:
918819
ClinVar RCV Id:
RCV001842655
dbSNP Id:
rs772410175
MyVariant Identifiers:
chr7:g.150649915C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952827C>A , CM000669.2:g.150952827C>A | GRCh38 |
| NC_000007.13:g.150649915C>A , CM000669.1:g.150649915C>A | GRCh37 |
| NC_000007.12:g.150280848C>A | NCBI36 |
| NG_008916.1:g.30100G>T , LRG_288:g.30100G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.453G>T | ||
| ENST00000684116.1:n.48G>T | ||
| ENST00000684241.1:n.1988G>T | ||
| ENST00000262186.10:c.1155G>T MANE Select | ENSP00000262186.5:p.Leu385= | |
| ENST00000330883.9:c.135G>T | ENSP00000328531.4:p.Leu45= | |
| ENST00000262186.9:c.1155G>T | ENSP00000262186.5:p.Leu385= | |
| ENST00000330883.8:c.135G>T | ENSP00000328531.4:p.Leu45= | |
| ENST00000430723.4:c.807G>T | ENSP00000387657.4:p.Leu269= | |
| ENST00000461280.1:n.442G>T | ||
| ENST00000473610.5:n.460G>T | ||
| ENST00000532957.5:n.1378G>T | ||
| NM_000238.3:c.1155G>T , LRG_288t1:c.1155G>T | NP_000229.1:p.Leu385= | |
| NM_001204798.1:c.135G>T | NP_001191727.1:p.Leu45= | |
| NM_172056.2:c.1155G>T , LRG_288t2:c.1155G>T | NP_742053.1:p.Leu385= | |
| NM_172057.2:c.135G>T , LRG_288t3:c.135G>T | NP_742054.1:p.Leu45= | |
| XM_011516185.1:c.855G>T | XP_011514487.1:p.Leu285= | |
| XM_011516186.1:c.1155G>T | XP_011514488.1:p.Leu385= | |
| XM_011516185.2:c.855G>T | XP_011514487.1:p.Leu285= | |
| XM_011516186.3:c.1155G>T | XP_011514488.1:p.Leu385= | |
| XM_017012195.1:c.1005G>T | XP_016867684.1:p.Leu335= | |
| XM_017012196.1:c.978G>T | XP_016867685.1:p.Leu326= | |
| NM_000238.4:c.1155G>T MANE Select | NP_000229.1:p.Leu385= | |
| NM_001204798.2:c.135G>T | NP_001191727.1:p.Leu45= | |
| NM_172057.3:c.135G>T | NP_742054.1:p.Leu45= |