Linked Data
ClinVar Variation Id:
2771199
ClinVar RCV Id:
RCV003532514
gnomAD v4:
7-150958303-C-A
MyVariant Identifiers:
chr7:g.150655391C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958303C>A , CM000669.2:g.150958303C>A | GRCh38 |
| NC_000007.13:g.150655391C>A , CM000669.1:g.150655391C>A | GRCh37 |
| NC_000007.12:g.150286324C>A | NCBI36 |
| NG_008916.1:g.24624G>T , LRG_288:g.24624G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1505G>T | ||
| ENST00000262186.10:c.672G>T MANE Select | ENSP00000262186.5:p.Gly224= | |
| ENST00000262186.9:c.672G>T | ENSP00000262186.5:p.Gly224= | |
| ENST00000430723.4:c.324G>T | ENSP00000387657.4:p.Gly108= | |
| ENST00000532957.5:n.895G>T | ||
| NM_000238.3:c.672G>T , LRG_288t1:c.672G>T | NP_000229.1:p.Gly224= | |
| NM_172056.2:c.672G>T , LRG_288t2:c.672G>T | NP_742053.1:p.Gly224= | |
| XM_011516185.1:c.372G>T | XP_011514487.1:p.Gly124= | |
| XM_011516186.1:c.672G>T | XP_011514488.1:p.Gly224= | |
| XM_011516185.2:c.372G>T | XP_011514487.1:p.Gly124= | |
| XM_011516186.3:c.672G>T | XP_011514488.1:p.Gly224= | |
| XM_017012195.1:c.522G>T | XP_016867684.1:p.Gly174= | |
| XM_017012196.1:c.495G>T | XP_016867685.1:p.Gly165= | |
| NM_000238.4:c.672G>T MANE Select | NP_000229.1:p.Gly224= |