Linked Data
ClinVar Variation Id:
1106164
ClinVar RCV Id:
RCV001430797
dbSNP Id:
rs2117004166
gnomAD v4:
7-150958219-C-T
MyVariant Identifiers:
chr7:g.150655307C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958219C>T , CM000669.2:g.150958219C>T | GRCh38 |
| NC_000007.13:g.150655307C>T , CM000669.1:g.150655307C>T | GRCh37 |
| NC_000007.12:g.150286240C>T | NCBI36 |
| NG_008916.1:g.24708G>A , LRG_288:g.24708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1589G>A | ||
| ENST00000262186.10:c.756G>A MANE Select | ENSP00000262186.5:p.Arg252= | |
| ENST00000262186.9:c.756G>A | ENSP00000262186.5:p.Arg252= | |
| ENST00000430723.4:c.408G>A | ENSP00000387657.4:p.Arg136= | |
| ENST00000532957.5:n.979G>A | ||
| NM_000238.3:c.756G>A , LRG_288t1:c.756G>A | NP_000229.1:p.Arg252= | |
| NM_172056.2:c.756G>A , LRG_288t2:c.756G>A | NP_742053.1:p.Arg252= | |
| XM_011516185.1:c.456G>A | XP_011514487.1:p.Arg152= | |
| XM_011516186.1:c.756G>A | XP_011514488.1:p.Arg252= | |
| XM_011516185.2:c.456G>A | XP_011514487.1:p.Arg152= | |
| XM_011516186.3:c.756G>A | XP_011514488.1:p.Arg252= | |
| XM_017012195.1:c.606G>A | XP_016867684.1:p.Arg202= | |
| XM_017012196.1:c.579G>A | XP_016867685.1:p.Arg193= | |
| NM_000238.4:c.756G>A MANE Select | NP_000229.1:p.Arg252= |