Linked Data
dbSNP Id:
rs763992842
ExAC:
9:130592091 C / T
gnomAD v2:
9-130592091-C-T
gnomAD v4:
9-127829812-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127829812C>T , CM000671.2:g.127829812C>T | GRCh38 |
| NC_000009.11:g.130592091C>T , CM000671.1:g.130592091C>T | GRCh37 |
| NC_000009.10:g.129631912C>T | NCBI36 |
| NG_009551.1:g.29957G>A , LRG_589:g.29957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-312G>A | ENSP00000479015.1:n.-312G>A | |
| ENST00000373203.9:c.235G>A MANE Select | ENSP00000362299.4:p.Glu79Lys | |
| ENST00000344849.4:c.235G>A | ENSP00000341917.3:p.Glu79Lys | |
| ENST00000373203.8:c.235G>A | ENSP00000362299.4:p.Glu79Lys | |
| ENST00000480266.5:c.-312G>A | ENSP00000479015.1:n.-312G>A | |
| NM_000118.3:c.235G>A , LRG_589t1:c.235G>A | NP_000109.1:p.Glu79Lys | |
| NM_001114753.2:c.235G>A , LRG_589t2:c.235G>A | NP_001108225.1:p.Glu79Lys | |
| NM_001278138.1:c.-312G>A | NP_001265067.1:n.-312G>A | |
| XR_001746952.2:n.83-2586C>T | ||
| NM_001114753.3:c.235G>A MANE Select | NP_001108225.1:p.Glu79Lys | |
| NM_001278138.2:c.-312G>A | NP_001265067.1:n.-312G>A |