Linked Data
ClinVar Variation Id:
196570
dbSNP Id:
rs75295839
ExAC:
15:73002101 A / G
gnomAD v2:
15-73002101-A-G
gnomAD v3:
15-72709760-A-G
gnomAD v4:
15-72709760-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72709760A>G , CM000677.2:g.72709760A>G | GRCh38 |
| NC_000015.9:g.73002101A>G , CM000677.1:g.73002101A>G | GRCh37 |
| NC_000015.8:g.70789154A>G | NCBI36 |
| NG_009416.2:g.28576A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.137A>G MANE Select | ENSP00000268057.4:p.Lys46Arg | |
| ENST00000268057.8:c.137A>G | ENSP00000268057.4:p.Lys46Arg | |
| ENST00000395205.6:c.-385A>G | ENSP00000378631.3:n.-385A>G | |
| ENST00000561914.5:c.137A>G | ENSP00000457795.1:p.Lys46Arg | |
| ENST00000562084.5:c.*216A>G | ENSP00000454718.1:n.*216A>G | |
| ENST00000563600.5:c.*87A>G | ENSP00000457753.1:n.*87A>G | |
| ENST00000564239.1:n.204A>G | ||
| ENST00000565160.5:c.137A>G | ENSP00000455412.1:p.Lys46Arg | |
| ENST00000566400.5:c.*22A>G | ENSP00000456759.1:n.*22A>G | |
| ENST00000566829.1:c.155A>G | ENSP00000455958.1:p.Lys52Arg | |
| ENST00000566938.5:c.*22A>G | ENSP00000456463.1:n.*22A>G | |
| ENST00000567279.5:c.195A>G | ENSP00000456664.1:p.Glu65= | |
| ENST00000569338.5:c.128A>G | ENSP00000456758.1:p.Lys43Arg | |
| ENST00000569440.5:c.*81A>G | ENSP00000457958.1:n.*81A>G | |
| NM_001252678.1:c.-385A>G | NP_001239607.1:n.-385A>G | |
| NM_033028.4:c.137A>G | NP_149017.2:p.Lys46Arg | |
| NR_045565.1:n.244A>G | ||
| NR_045566.1:n.499A>G | ||
| XM_006720625.2:c.137A>G | XP_006720688.1:p.Lys46Arg | |
| XM_011521848.1:c.-385A>G | XP_011520150.1:n.-385A>G | |
| XM_011521849.1:c.-268A>G | XP_011520151.1:n.-268A>G | |
| XM_011521851.1:c.-477A>G | XP_011520153.1:n.-477A>G | |
| NM_001320665.1:c.137A>G | NP_001307594.1:p.Lys46Arg | |
| XM_017022450.1:c.161A>G | XP_016877939.1:p.Lys54Arg | |
| XM_017022452.1:c.-268A>G | XP_016877941.1:n.-268A>G | |
| XM_017022453.1:c.-273A>G | XP_016877942.1:n.-273A>G | |
| XM_017022454.1:c.-273A>G | XP_016877943.1:n.-273A>G | |
| NM_033028.5:c.137A>G MANE Select | NP_149017.2:p.Lys46Arg | |
| NM_001252678.2:c.-385A>G | NP_001239607.1:n.-385A>G | |
| NM_001320665.2:c.137A>G | NP_001307594.1:p.Lys46Arg | |
| NR_045565.2:n.216A>G | ||
| NR_045566.2:n.471A>G |