Linked Data
ClinVar Variation Id:
94076
ClinVar RCV Id:
RCV000080024
dbSNP Id:
rs398123688
gnomAD v2:
19-11560153-G-T
gnomAD v4:
19-11449338-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11449338G>T , CM000681.2:g.11449338G>T | GRCh38 |
| NC_000019.9:g.11560153G>T , CM000681.1:g.11560153G>T | GRCh37 |
| NC_000019.8:g.11421153G>T | NCBI36 |
| NG_009300.1:g.18885G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000591462.6:c.1504G>T | ENSP00000465489.1:p.Glu502Ter | |
| ENST00000677123.1:c.1534G>T MANE Select | ENSP00000503163.1:p.Glu512Ter | |
| ENST00000586486.1:c.529G>T | ENSP00000465948.1:p.Glu177Ter | |
| ENST00000587290.5:n.696G>T | ||
| ENST00000587327.5:c.1504G>T | ENSP00000466012.1:p.Glu502Ter | |
| ENST00000589838.5:c.1513G>T | ENSP00000465461.1:p.Glu505Ter | |
| ENST00000591462.5:c.1504G>T | ENSP00000465489.1:p.Glu502Ter | |
| ENST00000592741.5:c.1534G>T | ENSP00000466134.1:p.Glu512Ter | |
| NM_001001329.2:c.1504G>T | NP_001001329.1:p.Glu502Ter | |
| NM_001289102.1:c.1504G>T | NP_001276031.1:p.Glu502Ter | |
| NM_001289103.1:c.1534G>T | NP_001276032.1:p.Glu512Ter | |
| NM_001289104.1:c.1534G>T | NP_001276033.1:p.Glu512Ter | |
| NM_002743.3:c.1513G>T | NP_002734.2:p.Glu505Ter | |
| XM_011528130.1:c.1534G>T | XP_011526432.1:p.Glu512Ter | |
| XM_011528131.1:c.1513G>T | XP_011526433.1:p.Glu505Ter | |
| XM_011528132.1:c.1504G>T | XP_011526434.1:p.Glu502Ter | |
| XM_017026977.2:c.1513G>T | XP_016882466.1:p.Glu505Ter | |
| XM_024451602.1:c.1504G>T | XP_024307370.1:p.Glu502Ter | |
| NM_001001329.3:c.1504G>T | NP_001001329.1:p.Glu502Ter | |
| NM_001289102.2:c.1504G>T | NP_001276031.1:p.Glu502Ter | |
| NM_001289103.2:c.1534G>T | NP_001276032.1:p.Glu512Ter | |
| NM_001289104.2:c.1534G>T MANE Select | NP_001276033.1:p.Glu512Ter | |
| NM_001379608.1:c.1513G>T | NP_001366537.1:p.Glu505Ter | |
| NM_001379609.1:c.1504G>T | NP_001366538.1:p.Glu502Ter |