Linked Data
ClinVar Variation Id:
456937
ClinVar RCV Id:
RCV000557580
dbSNP Id:
rs1242612823
gnomAD v3:
7-150958276-C-T
gnomAD v4:
7-150958276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958276C>T , CM000669.2:g.150958276C>T | GRCh38 |
| NC_000007.13:g.150655364C>T , CM000669.1:g.150655364C>T | GRCh37 |
| NC_000007.12:g.150286297C>T | NCBI36 |
| NG_008916.1:g.24651G>A , LRG_288:g.24651G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1532G>A | ||
| ENST00000262186.10:c.699G>A MANE Select | ENSP00000262186.5:p.Ala233= | |
| ENST00000262186.9:c.699G>A | ENSP00000262186.5:p.Ala233= | |
| ENST00000430723.4:c.351G>A | ENSP00000387657.4:p.Ala117= | |
| ENST00000532957.5:n.922G>A | ||
| NM_000238.3:c.699G>A , LRG_288t1:c.699G>A | NP_000229.1:p.Ala233= | |
| NM_172056.2:c.699G>A , LRG_288t2:c.699G>A | NP_742053.1:p.Ala233= | |
| XM_011516185.1:c.399G>A | XP_011514487.1:p.Ala133= | |
| XM_011516186.1:c.699G>A | XP_011514488.1:p.Ala233= | |
| XM_011516185.2:c.399G>A | XP_011514487.1:p.Ala133= | |
| XM_011516186.3:c.699G>A | XP_011514488.1:p.Ala233= | |
| XM_017012195.1:c.549G>A | XP_016867684.1:p.Ala183= | |
| XM_017012196.1:c.522G>A | XP_016867685.1:p.Ala174= | |
| NM_000238.4:c.699G>A MANE Select | NP_000229.1:p.Ala233= |