Linked Data
dbSNP Id:
rs755366368
ExAC:
8:133187771 C / T
gnomAD v2:
8-133187771-C-T
gnomAD v4:
8-132175524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175524C>T , CM000670.2:g.132175524C>T | GRCh38 |
| NC_000008.10:g.133187771C>T , CM000670.1:g.133187771C>T | GRCh37 |
| NC_000008.9:g.133256953C>T | NCBI36 |
| NG_008854.2:g.310234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.862G>A MANE Select | ENSP00000373648.3:p.Glu288Lys | |
| ENST00000521134.6:c.502G>A | ENSP00000429799.1:p.Glu168Lys | |
| ENST00000638588.1:c.535G>A | ENSP00000491940.1:p.Glu179Lys | |
| ENST00000639358.1:c.512G>A | ||
| ENST00000639496.1:c.535G>A | ENSP00000491165.1:p.Glu179Lys | |
| ENST00000388996.8:c.862G>A | ENSP00000373648.3:p.Glu288Lys | |
| ENST00000519445.5:c.862G>A | ENSP00000428790.1:p.Glu288Lys | |
| ENST00000519589.1:n.640G>A | ||
| ENST00000521134.5:c.502G>A | ENSP00000429799.1:p.Glu168Lys | |
| ENST00000621976.1:c.499G>A | ENSP00000482510.1:p.Glu167Lys | |
| NM_001204824.1:c.502G>A | NP_001191753.1:p.Glu168Lys | |
| NM_004519.3:c.862G>A | NP_004510.1:p.Glu288Lys | |
| XM_005250914.2:c.-295G>A | XP_005250971.1:n.-295G>A | |
| XM_006716555.2:c.154G>A | XP_006716618.1:p.Glu52Lys | |
| XM_011517026.1:c.502G>A | XP_011515328.1:p.Glu168Lys | |
| XM_005250914.3:c.-295G>A | XP_005250971.1:n.-295G>A | |
| XM_006716555.3:c.154G>A | XP_006716618.1:p.Glu52Lys | |
| XM_011517026.2:c.502G>A | XP_011515328.1:p.Glu168Lys | |
| XM_017013400.1:c.640G>A | XP_016868889.1:p.Glu214Lys | |
| NM_004519.4:c.862G>A MANE Select | NP_004510.1:p.Glu288Lys | |
| NM_001204824.2:c.502G>A | NP_001191753.1:p.Glu168Lys |