Linked Data
ClinVar Variation Id:
377977
dbSNP Id:
rs11567735
ExAC:
5:35867525 A / C
gnomAD v2:
5-35867525-A-C
gnomAD v3:
5-35867423-A-C
gnomAD v4:
5-35867423-A-C
ERepo:
CA3231920/MONDO:0012163/119
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867423A>C , CM000667.2:g.35867423A>C | GRCh38 |
| NC_000005.9:g.35867525A>C , CM000667.1:g.35867525A>C | GRCh37 |
| NC_000005.8:g.35903282A>C | NCBI36 |
| NG_009567.1:g.15535A>C , LRG_74:g.15535A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.339A>C MANE Select | ENSP00000306157.3:p.Glu113Asp | |
| ENST00000303115.7:c.339A>C | ENSP00000306157.3:p.Glu113Asp | |
| ENST00000506850.5:c.339A>C | ENSP00000421207.1:p.Glu113Asp | |
| ENST00000511031.1:n.473A>C | ||
| ENST00000511982.1:c.339A>C | ENSP00000425309.1:p.Glu113Asp | |
| ENST00000514217.5:c.339A>C | ENSP00000427688.1:p.Glu113Asp | |
| NM_002185.3:c.339A>C | NP_002176.2:p.Glu113Asp | |
| NR_120485.1:n.442A>C | ||
| XM_005248299.2:c.339A>C | XP_005248356.1:p.Glu113Asp | |
| XM_005248300.1:c.339A>C | XP_005248357.1:p.Glu113Asp | |
| XM_011514037.1:c.339A>C | XP_011512339.1:p.Glu113Asp | |
| NM_002185.4:c.339A>C | NP_002176.2:p.Glu113Asp | |
| NR_120485.2:n.468A>C | ||
| XM_005248299.4:c.339A>C | XP_005248356.1:p.Glu113Asp | |
| NM_002185.5:c.339A>C MANE Select | NP_002176.2:p.Glu113Asp | |
| NR_120485.3:n.426A>C |