Linked Data
ClinVar Variation Id:
294576
ClinVar RCV Id:
RCV003114465
dbSNP Id:
rs5991
ExAC:
1:197026151 T / A
gnomAD v2:
1-197026151-T-A
gnomAD v3:
1-197057021-T-A
gnomAD v4:
1-197057021-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197057021T>A , CM000663.2:g.197057021T>A | GRCh38 |
| NC_000001.10:g.197026151T>A , CM000663.1:g.197026151T>A | GRCh37 |
| NC_000001.9:g.195292774T>A | NCBI36 |
| NG_012065.1:g.15247A>T , LRG_550:g.15247A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367412.2:c.1163A>T MANE Select | ENSP00000356382.2:p.Glu388Val | |
| ENST00000367412.1:c.1163A>T | ENSP00000356382.1:p.Glu388Val | |
| NM_001994.2:c.1163A>T , LRG_550t1:c.1163A>T | NP_001985.2:p.Glu388Val | |
| XM_011509283.1:c.1163A>T | XP_011507585.1:p.Glu388Val | |
| XM_011509284.1:c.1160A>T | XP_011507586.1:p.Glu387Val | |
| XM_011509285.1:c.1067A>T | XP_011507587.1:p.Glu356Val | |
| XM_011509286.1:c.1019A>T | XP_011507588.1:p.Glu340Val | |
| XM_011509283.2:c.1163A>T | XP_011507585.1:p.Glu388Val | |
| XM_011509284.2:c.1160A>T | XP_011507586.1:p.Glu387Val | |
| XM_011509286.2:c.1019A>T | XP_011507588.1:p.Glu340Val | |
| NM_001994.3:c.1163A>T MANE Select | NP_001985.2:p.Glu388Val |