Linked Data
ClinVar Variation Id:
447412
dbSNP Id:
rs778550411
ExAC:
7:44189392 C / T
gnomAD v2:
7-44189392-C-T
gnomAD v3:
7-44149793-C-T
gnomAD v4:
7-44149793-C-T
ERepo:
CA4239565/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149793C>T , CM000669.2:g.44149793C>T | GRCh38 |
| NC_000007.13:g.44189392C>T , CM000669.1:g.44189392C>T | GRCh37 |
| NC_000007.12:g.44155917C>T | NCBI36 |
| NG_008847.1:g.44631G>A | |
| NG_008847.2:g.53378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*644G>A | ENSP00000379142.4:n.*644G>A | |
| ENST00000616242.5:c.646G>A | ENSP00000482149.2:p.Glu216Lys | |
| ENST00000682635.1:n.1132G>A | ||
| ENST00000345378.7:c.649G>A | ENSP00000223366.2:p.Glu217Lys | |
| ENST00000403799.8:c.646G>A MANE Select | ENSP00000384247.3:p.Glu216Lys | |
| ENST00000671824.1:c.646G>A | ENSP00000500264.1:p.Glu216Lys | |
| ENST00000673284.1:c.646G>A | ENSP00000499852.1:p.Glu216Lys | |
| ENST00000345378.6:c.649G>A | ENSP00000223366.2:p.Glu217Lys | |
| ENST00000395796.7:c.643G>A | ENSP00000379142.3:p.Glu215Lys | |
| ENST00000403799.7:c.646G>A | ENSP00000384247.3:p.Glu216Lys | |
| ENST00000437084.1:c.595G>A | ENSP00000402840.1:p.Glu199Lys | |
| ENST00000616242.4:c.643G>A | ENSP00000482149.1:p.Glu215Lys | |
| NM_000162.3:c.646G>A | NP_000153.1:p.Glu216Lys | |
| NM_033507.1:c.649G>A | NP_277042.1:p.Glu217Lys | |
| NM_033508.1:c.643G>A | NP_277043.1:p.Glu215Lys | |
| NM_000162.4:c.646G>A | NP_000153.1:p.Glu216Lys | |
| NM_001354800.1:c.646G>A | NP_001341729.1:p.Glu216Lys | |
| NM_033507.2:c.649G>A | NP_277042.1:p.Glu217Lys | |
| NM_033508.2:c.643G>A | NP_277043.1:p.Glu215Lys | |
| NM_000162.5:c.646G>A MANE Select | NP_000153.1:p.Glu216Lys | |
| NM_033507.3:c.649G>A | NP_277042.1:p.Glu217Lys | |
| NM_033508.3:c.643G>A | NP_277043.1:p.Glu215Lys |