Linked Data
ClinVar Variation Id:
194277
dbSNP Id:
rs28542318
ExAC:
9:140130606 A / T
gnomAD v2:
9-140130606-A-T
gnomAD v3:
9-137236154-A-T
gnomAD v4:
9-137236154-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137236154A>T , CM000671.2:g.137236154A>T | GRCh38 |
| NC_000009.11:g.140130606A>T , CM000671.1:g.140130606A>T | GRCh37 |
| NC_000009.10:g.139250427A>T | NCBI36 |
| NG_017008.2:g.10254A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673835.1:c.1538A>T MANE Select | ENSP00000501114.1:p.Glu513Val | |
| ENST00000361134.2:c.1538A>T | ENSP00000355353.2:p.Glu513Val | |
| ENST00000538474.5:c.1538A>T | ENSP00000442397.1:p.Glu513Val | |
| XM_017014292.1:c.1538A>T | XP_016869781.1:p.Glu513Val | |
| NM_001177316.2:c.1538A>T MANE Select | NP_001170787.2:p.Glu513Val | |
| NM_001177317.2:c.1538A>T | NP_001170788.2:p.Glu513Val | |
| NM_080877.3:c.1538A>T | NP_543153.2:p.Glu513Val |