Linked Data
ClinVar Variation Id:
2052937
ClinVar RCV Id:
RCV002937827
dbSNP Id:
rs747318073
ExAC:
2:55899140 T / A
gnomAD v2:
2-55899140-T-A
gnomAD v4:
2-55672005-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55672005T>A , CM000664.2:g.55672005T>A | GRCh38 |
| NC_000002.11:g.55899140T>A , CM000664.1:g.55899140T>A | GRCh37 |
| NC_000002.10:g.55752644T>A | NCBI36 |
| NG_033012.1:g.26906A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.908A>T MANE Select | ENSP00000400646.2:p.Glu303Val | |
| ENST00000260604.8:c.*463A>T | ENSP00000260604.4:n.*463A>T | |
| ENST00000415374.5:c.908A>T | ENSP00000393953.1:p.Glu303Val | |
| ENST00000447944.6:c.908A>T | ENSP00000400646.2:p.Glu303Val | |
| NM_033109.4:c.908A>T | NP_149100.2:p.Glu303Val | |
| XM_005264629.1:c.668A>T | XP_005264686.1:p.Glu223Val | |
| XM_011533142.1:c.908A>T | XP_011531444.1:p.Glu303Val | |
| XM_005264629.2:c.668A>T | XP_005264686.1:p.Glu223Val | |
| XM_017005172.1:c.668A>T | XP_016860661.1:p.Glu223Val | |
| XR_001739010.1:n.938A>T | ||
| NM_033109.5:c.908A>T MANE Select | NP_149100.2:p.Glu303Val |