Linked Data
dbSNP Id:
rs778074599
ExAC:
2:73799719 A / G
gnomAD v2:
2-73799719-A-G
gnomAD v4:
2-73572592-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572592A>G , CM000664.2:g.73572592A>G | GRCh38 |
| NC_000002.11:g.73799719A>G , CM000664.1:g.73799719A>G | GRCh37 |
| NC_000002.10:g.73653227A>G | NCBI36 |
| NG_011690.1:g.191840A>G , LRG_741:g.191840A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10334A>G | ENSP00000507671.1:p.Lys3445Arg | |
| ENST00000682801.1:c.10334A>G | ENSP00000507862.1:p.Lys3445Arg | |
| ENST00000682859.1:c.10334A>G | ENSP00000508222.1:p.Lys3445Arg | |
| ENST00000683791.1:c.3420A>G | ||
| ENST00000684460.1:c.7615A>G | ||
| ENST00000684548.1:c.10334A>G | ENSP00000507421.1:p.Lys3445Arg | |
| ENST00000684590.1:c.4781A>G | ENSP00000507376.1:p.Lys1594Arg | |
| ENST00000684656.1:c.7660A>G | ||
| ENST00000613296.6:c.10715A>G MANE Select | ENSP00000482968.1:p.Lys3572Arg | |
| ENST00000651057.1:c.869A>G | ENSP00000498504.1:p.Lys290Arg | |
| ENST00000651434.1:c.2071A>G | ||
| ENST00000651750.1:c.103A>G | ||
| ENST00000652487.1:c.1812A>G | ||
| ENST00000423048.5:c.4206A>G | ENSP00000399833.1:n.4206A>G | |
| ENST00000484298.5:c.10589A>G | ENSP00000478155.1:p.Lys3530Arg | |
| ENST00000613296.4:c.10715A>G | ENSP00000482968.1:p.Lys3572Arg | |
| ENST00000614410.4:c.10715A>G | ENSP00000479094.1:p.Lys3572Arg | |
| ENST00000620466.4:n.4518A>G | ||
| NM_015120.4:c.10718A>G , LRG_741t1:c.10718A>G | NP_055935.4:p.Lys3573Arg | |
| NM_001378454.1:c.10715A>G MANE Select | NP_001365383.1:p.Lys3572Arg |