Linked Data
ClinVar Variation Id:
245830
dbSNP Id:
rs369224847
ExAC:
7:30638494 A / G
gnomAD v2:
7-30638494-A-G
gnomAD v3:
7-30598878-A-G
gnomAD v4:
7-30598878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30598878A>G , CM000669.2:g.30598878A>G | GRCh38 |
| NC_000007.13:g.30638494A>G , CM000669.1:g.30638494A>G | GRCh37 |
| NC_000007.12:g.30605019A>G | NCBI36 |
| NG_007942.1:g.9314A>G , LRG_243:g.9314A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.305A>G MANE Select | ENSP00000373918.3:p.Lys102Arg | |
| ENST00000444666.6:c.305A>G | ENSP00000415447.2:p.Lys102Arg | |
| ENST00000454308.6:c.305A>G | ENSP00000392677.2:p.Lys102Arg | |
| ENST00000470392.2:n.395A>G | ||
| ENST00000478124.6:n.368A>G | ||
| ENST00000485784.2:n.384A>G | ||
| ENST00000674616.1:c.305A>G | ENSP00000502408.1:p.Lys102Arg | |
| ENST00000674643.1:c.305A>G | ENSP00000501636.1:p.Lys102Arg | |
| ENST00000674737.1:c.305A>G | ENSP00000502464.1:p.Lys102Arg | |
| ENST00000674807.1:c.305A>G | ENSP00000502814.1:p.Lys102Arg | |
| ENST00000674815.1:c.-65A>G | ENSP00000502799.1:n.-65A>G | |
| ENST00000674851.1:c.-65A>G | ENSP00000502451.1:n.-65A>G | |
| ENST00000674969.1:n.345A>G | ||
| ENST00000675025.1:n.221A>G | ||
| ENST00000675051.1:c.104A>G | ENSP00000502296.1:p.Lys35Arg | |
| ENST00000675529.1:c.*175A>G | ENSP00000501655.1:n.*175A>G | |
| ENST00000675587.1:n.321A>G | ||
| ENST00000675651.1:c.305A>G | ENSP00000502513.1:p.Lys102Arg | |
| ENST00000675693.1:c.137A>G | ENSP00000502174.1:p.Lys46Arg | |
| ENST00000675810.1:c.223-1069A>G | ENSP00000502743.1:n.223-1069A>G | |
| ENST00000675859.1:c.305A>G | ENSP00000502033.1:p.Lys102Arg | |
| ENST00000675863.1:n.313A>G | ||
| ENST00000675886.1:n.333A>G | ||
| ENST00000676088.1:c.*175A>G | ENSP00000501884.1:n.*175A>G | |
| ENST00000676140.1:c.305A>G | ENSP00000502571.1:p.Lys102Arg | |
| ENST00000676164.1:c.305A>G | ENSP00000501986.1:p.Lys102Arg | |
| ENST00000676210.1:c.305A>G | ENSP00000502373.1:p.Lys102Arg | |
| ENST00000676259.1:c.305A>G | ENSP00000501980.1:p.Lys102Arg | |
| ENST00000676403.1:c.305A>G | ENSP00000502681.1:p.Lys102Arg | |
| ENST00000389266.7:c.305A>G | ENSP00000373918.3:p.Lys102Arg | |
| ENST00000454308.5:c.*175A>G | ENSP00000392677.1:n.*175A>G | |
| ENST00000478124.5:n.343A>G | ||
| NM_001316772.1:c.143A>G | NP_001303701.1:p.Lys48Arg | |
| NM_002047.2:c.305A>G , LRG_243t1:c.305A>G | NP_002038.2:p.Lys102Arg | |
| NM_002047.3:c.305A>G | NP_002038.2:p.Lys102Arg | |
| XM_006715686.1:c.-65A>G | XP_006715749.1:n.-65A>G | |
| XM_006715686.2:c.-65A>G | XP_006715749.1:n.-65A>G | |
| NM_002047.4:c.305A>G MANE Select | NP_002038.2:p.Lys102Arg |