Linked Data
ClinVar Variation Id:
67269
dbSNP Id:
rs28928904
gnomAD v2:
7-150648703-A-T
gnomAD v4:
7-150951615-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951615A>T , CM000669.2:g.150951615A>T | GRCh38 |
| NC_000007.13:g.150648703A>T , CM000669.1:g.150648703A>T | GRCh37 |
| NC_000007.12:g.150279636A>T | NCBI36 |
| NG_008916.1:g.31312T>A , LRG_288:g.31312T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.1076T>A | ||
| ENST00000684241.1:n.2611T>A | ||
| ENST00000262186.10:c.1778T>A MANE Select | ENSP00000262186.5:p.Ile593Lys | |
| ENST00000330883.9:c.758T>A | ENSP00000328531.4:p.Ile253Lys | |
| ENST00000262186.9:c.1778T>A | ENSP00000262186.5:p.Ile593Lys | |
| ENST00000330883.8:c.758T>A | ENSP00000328531.4:p.Ile253Lys | |
| ENST00000430723.4:c.1430T>A | ENSP00000387657.4:p.Ile477Lys | |
| ENST00000461280.1:n.1065T>A | ||
| ENST00000473610.5:n.1083T>A | ||
| ENST00000532957.5:n.2001T>A | ||
| NM_000238.3:c.1778T>A , LRG_288t1:c.1778T>A | NP_000229.1:p.Ile593Lys | |
| NM_001204798.1:c.758T>A | NP_001191727.1:p.Ile253Lys | |
| NM_172056.2:c.1778T>A , LRG_288t2:c.1778T>A | NP_742053.1:p.Ile593Lys | |
| NM_172057.2:c.758T>A , LRG_288t3:c.758T>A | NP_742054.1:p.Ile253Lys | |
| XM_011516185.1:c.1478T>A | XP_011514487.1:p.Ile493Lys | |
| XM_011516186.1:c.1778T>A | XP_011514488.1:p.Ile593Lys | |
| XM_011516185.2:c.1478T>A | XP_011514487.1:p.Ile493Lys | |
| XM_011516186.3:c.1778T>A | XP_011514488.1:p.Ile593Lys | |
| XM_017012195.1:c.1628T>A | XP_016867684.1:p.Ile543Lys | |
| XM_017012196.1:c.1601T>A | XP_016867685.1:p.Ile534Lys | |
| NM_000238.4:c.1778T>A MANE Select | NP_000229.1:p.Ile593Lys | |
| NM_001204798.2:c.758T>A | NP_001191727.1:p.Ile253Lys | |
| NM_172057.3:c.758T>A | NP_742054.1:p.Ile253Lys |