Linked Data
ClinVar Variation Id:
199044
ClinVar RCV Id:
RCV000252989
RCV000414984
RCV000415149
RCV000415387
RCV000487503
RCV001248923
RCV001509572
RCV001836745
dbSNP Id:
rs2230288
ExAC:
1:155206167 C / T
gnomAD v2:
1-155206167-C-T
gnomAD v3:
1-155236376-C-T
gnomAD v4:
1-155236376-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155236376C>T , CM000663.2:g.155236376C>T | GRCh38 |
| NC_000001.10:g.155206167C>T , CM000663.1:g.155206167C>T | GRCh37 |
| NC_000001.9:g.153472791C>T | NCBI36 |
| NG_009783.1:g.13322G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368373.8:c.1093G>A MANE Select | ENSP00000357357.3:p.Glu365Lys | |
| ENST00000327247.9:c.1093G>A | ENSP00000314508.5:p.Glu365Lys | |
| ENST00000368373.7:c.1093G>A | ENSP00000357357.3:p.Glu365Lys | |
| ENST00000427500.7:c.946G>A | ENSP00000402577.2:p.Glu316Lys | |
| ENST00000428024.3:c.832G>A | ENSP00000397986.2:p.Glu278Lys | |
| ENST00000478472.1:n.84G>A | ||
| ENST00000484489.5:n.340-88G>A | ||
| ENST00000491081.5:n.698G>A | ||
| NM_000157.3:c.1093G>A | NP_000148.2:p.Glu365Lys | |
| NM_001005741.2:c.1093G>A | NP_001005741.1:p.Glu365Lys | |
| NM_001005742.2:c.1093G>A | NP_001005742.1:p.Glu365Lys | |
| NM_001171811.1:c.832G>A | NP_001165282.1:p.Glu278Lys | |
| NM_001171812.1:c.946G>A | NP_001165283.1:p.Glu316Lys | |
| XM_006711270.1:c.1093G>A | XP_006711333.1:p.Glu365Lys | |
| XM_011509407.1:c.1093G>A | XP_011507709.1:p.Glu365Lys | |
| NM_000157.4:c.1093G>A MANE Select | NP_000148.2:p.Glu365Lys | |
| NM_001005741.3:c.1093G>A | NP_001005741.1:p.Glu365Lys | |
| NM_001005742.3:c.1093G>A | NP_001005742.1:p.Glu365Lys | |
| NM_001171811.2:c.832G>A | NP_001165282.1:p.Glu278Lys | |
| NM_001171812.2:c.946G>A | NP_001165283.1:p.Glu316Lys |