Linked Data
ClinVar Variation Id:
649300
ClinVar RCV Id:
RCV000804202
dbSNP Id:
rs1187921286
gnomAD v2:
7-150654530-C-T
gnomAD v3:
7-150957442-C-T
gnomAD v4:
7-150957442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957442C>T , CM000669.2:g.150957442C>T | GRCh38 |
| NC_000007.13:g.150654530C>T , CM000669.1:g.150654530C>T | GRCh37 |
| NC_000007.12:g.150285463C>T | NCBI36 |
| NG_008916.1:g.25485G>A , LRG_288:g.25485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1810G>A | ||
| ENST00000262186.10:c.977G>A MANE Select | ENSP00000262186.5:p.Arg326His | |
| ENST00000262186.9:c.977G>A | ENSP00000262186.5:p.Arg326His | |
| ENST00000430723.4:c.629G>A | ENSP00000387657.4:p.Arg210His | |
| ENST00000532957.5:n.1200G>A | ||
| NM_000238.3:c.977G>A , LRG_288t1:c.977G>A | NP_000229.1:p.Arg326His | |
| NM_172056.2:c.977G>A , LRG_288t2:c.977G>A | NP_742053.1:p.Arg326His | |
| XM_011516185.1:c.677G>A | XP_011514487.1:p.Arg226His | |
| XM_011516186.1:c.977G>A | XP_011514488.1:p.Arg326His | |
| XM_011516185.2:c.677G>A | XP_011514487.1:p.Arg226His | |
| XM_011516186.3:c.977G>A | XP_011514488.1:p.Arg326His | |
| XM_017012195.1:c.827G>A | XP_016867684.1:p.Arg276His | |
| XM_017012196.1:c.800G>A | XP_016867685.1:p.Arg267His | |
| NM_000238.4:c.977G>A MANE Select | NP_000229.1:p.Arg326His |