Linked Data
ClinVar Variation Id:
1756672
dbSNP Id:
rs1563170318
gnomAD v4:
7-150958275-G-A
MyVariant Identifiers:
chr7:g.150655363G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958275G>A , CM000669.2:g.150958275G>A | GRCh38 |
| NC_000007.13:g.150655363G>A , CM000669.1:g.150655363G>A | GRCh37 |
| NC_000007.12:g.150286296G>A | NCBI36 |
| NG_008916.1:g.24652C>T , LRG_288:g.24652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1533C>T | ||
| ENST00000262186.10:c.700C>T MANE Select | ENSP00000262186.5:p.Leu234= | |
| ENST00000262186.9:c.700C>T | ENSP00000262186.5:p.Leu234= | |
| ENST00000430723.4:c.352C>T | ENSP00000387657.4:p.Leu118= | |
| ENST00000532957.5:n.923C>T | ||
| NM_000238.3:c.700C>T , LRG_288t1:c.700C>T | NP_000229.1:p.Leu234= | |
| NM_172056.2:c.700C>T , LRG_288t2:c.700C>T | NP_742053.1:p.Leu234= | |
| XM_011516185.1:c.400C>T | XP_011514487.1:p.Leu134= | |
| XM_011516186.1:c.700C>T | XP_011514488.1:p.Leu234= | |
| XM_011516185.2:c.400C>T | XP_011514487.1:p.Leu134= | |
| XM_011516186.3:c.700C>T | XP_011514488.1:p.Leu234= | |
| XM_017012195.1:c.550C>T | XP_016867684.1:p.Leu184= | |
| XM_017012196.1:c.523C>T | XP_016867685.1:p.Leu175= | |
| NM_000238.4:c.700C>T MANE Select | NP_000229.1:p.Leu234= |