Linked Data
ClinVar Variation Id:
5562
dbSNP Id:
rs28939071
ExAC:
14:75483796 C / T
gnomAD v2:
14-75483796-C-T
gnomAD v3:
14-75017093-C-T
gnomAD v4:
14-75017093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75017093C>T , CM000676.2:g.75017093C>T | GRCh38 |
| NC_000014.8:g.75483796C>T , CM000676.1:g.75483796C>T | GRCh37 |
| NC_000014.7:g.74553549C>T | NCBI36 |
| NG_008649.1:g.39440G>A , LRG_217:g.39440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.4351G>A MANE Select | ENSP00000348020.2:p.Glu1451Lys | |
| ENST00000355774.6:c.4351G>A | ENSP00000348020.2:p.Glu1451Lys | |
| ENST00000380968.6:c.4279G>A | ENSP00000370355.3:p.Glu1427Lys | |
| ENST00000553713.5:c.1422G>A | ||
| ENST00000554697.5:c.364G>A | ENSP00000451055.1:p.Glu122Lys | |
| ENST00000555415.1:n.393G>A | ||
| ENST00000556257.5:c.3817G>A | ENSP00000451540.1:p.Glu1273Lys | |
| ENST00000556740.5:c.4351G>A | ENSP00000452316.1:p.Glu1451Lys | |
| NM_001040108.1:c.4351G>A , LRG_217t1:c.4351G>A | NP_001035197.1:p.Glu1451Lys | |
| NM_014381.2:c.4279G>A | NP_055196.2:p.Glu1427Lys | |
| XM_005267531.3:c.4351G>A | XP_005267588.1:p.Glu1451Lys | |
| XM_005267532.3:c.4246G>A | XP_005267589.1:p.Glu1416Lys | |
| XM_005267533.3:c.4174G>A | XP_005267590.1:p.Glu1392Lys | |
| XM_006720116.2:c.4351G>A | XP_006720179.1:p.Glu1451Lys | |
| XM_011536646.1:c.4180G>A | XP_011534948.1:p.Glu1394Lys | |
| XR_245681.2:n.4567G>A | ||
| XM_005267532.5:c.4246G>A | XP_005267589.1:p.Glu1416Lys | |
| XM_005267533.5:c.4174G>A | XP_005267590.1:p.Glu1392Lys | |
| XM_006720116.4:c.4351G>A | XP_006720179.1:p.Glu1451Lys | |
| XM_011536646.3:c.4180G>A | XP_011534948.1:p.Glu1394Lys | |
| XM_017021219.2:c.4279G>A | XP_016876708.1:p.Glu1427Lys | |
| XM_024449538.1:c.4246G>A | XP_024305306.1:p.Glu1416Lys | |
| XM_024449539.1:c.799G>A | XP_024305307.1:p.Glu267Lys | |
| XR_001750225.2:n.4442G>A | ||
| XR_001750227.2:n.4354G>A | ||
| XR_001750228.2:n.4527G>A | ||
| XR_001750229.2:n.4422G>A | ||
| XR_001750230.2:n.4359G>A | ||
| XR_002957544.1:n.4523G>A | ||
| XR_245681.4:n.4514G>A | ||
| NM_001040108.2:c.4351G>A MANE Select | NP_001035197.1:p.Glu1451Lys | |
| NM_014381.3:c.4279G>A | NP_055196.2:p.Glu1427Lys |