Linked Data
ClinVar Variation Id:
925086
ClinVar RCV Id:
RCV001840970
dbSNP Id:
rs1801086098
gnomAD v4:
7-150950229-C-A
MyVariant Identifiers:
chr7:g.150647317C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950229C>A , CM000669.2:g.150950229C>A | GRCh38 |
| NC_000007.13:g.150647317C>A , CM000669.1:g.150647317C>A | GRCh37 |
| NC_000007.12:g.150278250C>A | NCBI36 |
| NG_008916.1:g.32698G>T , LRG_288:g.32698G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.1635G>T | ||
| ENST00000684241.1:n.3170G>T | ||
| ENST00000262186.10:c.2337G>T MANE Select | ENSP00000262186.5:p.Leu779= | |
| ENST00000330883.9:c.1317G>T | ENSP00000328531.4:p.Leu439= | |
| ENST00000262186.9:c.2337G>T | ENSP00000262186.5:p.Leu779= | |
| ENST00000330883.8:c.1317G>T | ENSP00000328531.4:p.Leu439= | |
| ENST00000430723.4:c.1989G>T | ENSP00000387657.4:p.Leu663= | |
| ENST00000461280.1:n.1624G>T | ||
| ENST00000473610.5:n.1969G>T | ||
| ENST00000532957.5:n.2560G>T | ||
| NM_000238.3:c.2337G>T , LRG_288t1:c.2337G>T | NP_000229.1:p.Leu779= | |
| NM_001204798.1:c.1317G>T | NP_001191727.1:p.Leu439= | |
| NM_172056.2:c.2337G>T , LRG_288t2:c.2337G>T | NP_742053.1:p.Leu779= | |
| NM_172057.2:c.1317G>T , LRG_288t3:c.1317G>T | NP_742054.1:p.Leu439= | |
| XM_011516185.1:c.2037G>T | XP_011514487.1:p.Leu679= | |
| XM_011516186.1:c.2337G>T | XP_011514488.1:p.Leu779= | |
| XM_011516185.2:c.2037G>T | XP_011514487.1:p.Leu679= | |
| XM_011516186.3:c.2337G>T | XP_011514488.1:p.Leu779= | |
| XM_017012195.1:c.2187G>T | XP_016867684.1:p.Leu729= | |
| XM_017012196.1:c.2160G>T | XP_016867685.1:p.Leu720= | |
| NM_000238.4:c.2337G>T MANE Select | NP_000229.1:p.Leu779= | |
| NM_001204798.2:c.1317G>T | NP_001191727.1:p.Leu439= | |
| NM_172057.3:c.1317G>T | NP_742054.1:p.Leu439= |