Linked Data
ClinVar Variation Id:
379687
dbSNP Id:
rs1057520689
gnomAD v2:
7-150655327-C-A
gnomAD v3:
7-150958239-C-A
gnomAD v4:
7-150958239-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958239C>A , CM000669.2:g.150958239C>A | GRCh38 |
| NC_000007.13:g.150655327C>A , CM000669.1:g.150655327C>A | GRCh37 |
| NC_000007.12:g.150286260C>A | NCBI36 |
| NG_008916.1:g.24688G>T , LRG_288:g.24688G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1569G>T | ||
| ENST00000262186.10:c.736G>T MANE Select | ENSP00000262186.5:p.Gly246Cys | |
| ENST00000262186.9:c.736G>T | ENSP00000262186.5:p.Gly246Cys | |
| ENST00000430723.4:c.388G>T | ENSP00000387657.4:p.Gly130Cys | |
| ENST00000532957.5:n.959G>T | ||
| NM_000238.3:c.736G>T , LRG_288t1:c.736G>T | NP_000229.1:p.Gly246Cys | |
| NM_172056.2:c.736G>T , LRG_288t2:c.736G>T | NP_742053.1:p.Gly246Cys | |
| XM_011516185.1:c.436G>T | XP_011514487.1:p.Gly146Cys | |
| XM_011516186.1:c.736G>T | XP_011514488.1:p.Gly246Cys | |
| XM_011516185.2:c.436G>T | XP_011514487.1:p.Gly146Cys | |
| XM_011516186.3:c.736G>T | XP_011514488.1:p.Gly246Cys | |
| XM_017012195.1:c.586G>T | XP_016867684.1:p.Gly196Cys | |
| XM_017012196.1:c.559G>T | XP_016867685.1:p.Gly187Cys | |
| NM_000238.4:c.736G>T MANE Select | NP_000229.1:p.Gly246Cys |