Linked Data
ClinVar Variation Id:
360006
dbSNP Id:
rs201447520
ExAC:
7:30649230 G / A
gnomAD v2:
7-30649230-G-A
gnomAD v3:
7-30609614-G-A
gnomAD v4:
7-30609614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30609614G>A , CM000669.2:g.30609614G>A | GRCh38 |
| NC_000007.13:g.30649230G>A , CM000669.1:g.30649230G>A | GRCh37 |
| NC_000007.12:g.30615755G>A | NCBI36 |
| NG_007942.1:g.20050G>A , LRG_243:g.20050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.765G>A MANE Select | ENSP00000373918.3:p.Ala255= | |
| ENST00000444666.6:c.765G>A | ENSP00000415447.2:p.Ala255= | |
| ENST00000470392.2:n.855G>A | ||
| ENST00000478124.6:n.828G>A | ||
| ENST00000485784.2:n.844G>A | ||
| ENST00000674616.1:c.*479G>A | ENSP00000502408.1:n.*479G>A | |
| ENST00000674643.1:c.765G>A | ENSP00000501636.1:p.Ala255= | |
| ENST00000674734.1:n.1261G>A | ||
| ENST00000674737.1:c.*103G>A | ENSP00000502464.1:n.*103G>A | |
| ENST00000674807.1:c.765G>A | ENSP00000502814.1:p.Ala255= | |
| ENST00000674815.1:c.396G>A | ENSP00000502799.1:p.Ala132= | |
| ENST00000674851.1:c.396G>A | ENSP00000502451.1:p.Ala132= | |
| ENST00000674969.1:n.2638G>A | ||
| ENST00000675051.1:c.564G>A | ENSP00000502296.1:p.Ala188= | |
| ENST00000675529.1:c.*635G>A | ENSP00000501655.1:n.*635G>A | |
| ENST00000675587.1:n.781G>A | ||
| ENST00000675651.1:c.765G>A | ENSP00000502513.1:p.Ala255= | |
| ENST00000675693.1:c.597G>A | ENSP00000502174.1:p.Ala199= | |
| ENST00000675810.1:c.663G>A | ENSP00000502743.1:p.Ala221= | |
| ENST00000675859.1:c.765G>A | ENSP00000502033.1:p.Ala255= | |
| ENST00000675863.1:n.773G>A | ||
| ENST00000675886.1:n.6805G>A | ||
| ENST00000676088.1:c.*707G>A | ENSP00000501884.1:n.*707G>A | |
| ENST00000676140.1:c.765G>A | ENSP00000502571.1:p.Ala255= | |
| ENST00000676164.1:c.*216G>A | ENSP00000501986.1:n.*216G>A | |
| ENST00000676210.1:c.*54G>A | ENSP00000502373.1:n.*54G>A | |
| ENST00000676259.1:c.*197G>A | ENSP00000501980.1:n.*197G>A | |
| ENST00000676403.1:c.765G>A | ENSP00000502681.1:p.Ala255= | |
| ENST00000389266.7:c.765G>A | ENSP00000373918.3:p.Ala255= | |
| ENST00000478124.5:n.803G>A | ||
| NM_001316772.1:c.603G>A | NP_001303701.1:p.Ala201= | |
| NM_002047.2:c.765G>A , LRG_243t1:c.765G>A | NP_002038.2:p.Ala255= | |
| NM_002047.3:c.765G>A | NP_002038.2:p.Ala255= | |
| XM_006715686.1:c.396G>A | XP_006715749.1:p.Ala132= | |
| XM_006715686.2:c.396G>A | XP_006715749.1:p.Ala132= | |
| NM_002047.4:c.765G>A MANE Select | NP_002038.2:p.Ala255= |