Linked Data
dbSNP Id:
rs1289194434
gnomAD v2:
7-150645536-G-T
gnomAD v3:
7-150948448-G-T
gnomAD v4:
7-150948448-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948448G>T , CM000669.2:g.150948448G>T | GRCh38 |
| NC_000007.13:g.150645536G>T , CM000669.1:g.150645536G>T | GRCh37 |
| NC_000007.12:g.150276469G>T | NCBI36 |
| NG_008916.1:g.34479C>A , LRG_288:g.34479C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3521C>A | ||
| ENST00000262186.10:c.2688C>A MANE Select | ENSP00000262186.5:p.Asp896Glu | |
| ENST00000330883.9:c.1668C>A | ENSP00000328531.4:p.Asp556Glu | |
| ENST00000262186.9:c.2688C>A | ENSP00000262186.5:p.Asp896Glu | |
| ENST00000330883.8:c.1668C>A | ENSP00000328531.4:p.Asp556Glu | |
| NM_000238.3:c.2688C>A , LRG_288t1:c.2688C>A | NP_000229.1:p.Asp896Glu | |
| NM_172057.2:c.1668C>A , LRG_288t3:c.1668C>A | NP_742054.1:p.Asp556Glu | |
| XM_011516185.1:c.2388C>A | XP_011514487.1:p.Asp796Glu | |
| XM_011516186.1:c.2688C>A | XP_011514488.1:p.Asp896Glu | |
| XM_011516185.2:c.2388C>A | XP_011514487.1:p.Asp796Glu | |
| XM_011516186.3:c.2688C>A | XP_011514488.1:p.Asp896Glu | |
| XM_017012195.1:c.2538C>A | XP_016867684.1:p.Asp846Glu | |
| XM_017012196.1:c.2511C>A | XP_016867685.1:p.Asp837Glu | |
| NM_000238.4:c.2688C>A MANE Select | NP_000229.1:p.Asp896Glu | |
| NM_172057.3:c.1668C>A | NP_742054.1:p.Asp556Glu |