Linked Data
ClinVar Variation Id:
2903986
ClinVar RCV Id:
RCV003648938
dbSNP Id:
rs1343027062
gnomAD v4:
7-150958435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958435C>T , CM000669.2:g.150958435C>T | GRCh38 |
| NC_000007.13:g.150655523C>T , CM000669.1:g.150655523C>T | GRCh37 |
| NC_000007.12:g.150286456C>T | NCBI36 |
| NG_008916.1:g.24492G>A , LRG_288:g.24492G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1373G>A | ||
| ENST00000262186.10:c.540G>A MANE Select | ENSP00000262186.5:p.Val180= | |
| ENST00000262186.9:c.540G>A | ENSP00000262186.5:p.Val180= | |
| ENST00000430723.4:c.235-43G>A | ENSP00000387657.4:n.235-43G>A | |
| ENST00000532957.5:n.763G>A | ||
| NM_000238.3:c.540G>A , LRG_288t1:c.540G>A | NP_000229.1:p.Val180= | |
| NM_172056.2:c.540G>A , LRG_288t2:c.540G>A | NP_742053.1:p.Val180= | |
| XM_011516185.1:c.240G>A | XP_011514487.1:p.Val80= | |
| XM_011516186.1:c.540G>A | XP_011514488.1:p.Val180= | |
| XM_011516185.2:c.240G>A | XP_011514487.1:p.Val80= | |
| XM_011516186.3:c.540G>A | XP_011514488.1:p.Val180= | |
| XM_017012195.1:c.390G>A | XP_016867684.1:p.Val130= | |
| XM_017012196.1:c.363G>A | XP_016867685.1:p.Val121= | |
| NM_000238.4:c.540G>A MANE Select | NP_000229.1:p.Val180= |