Linked Data
ClinVar Variation Id:
140941
dbSNP Id:
rs587781384
ExAC:
11:94189489 C / A
gnomAD v2:
11-94189489-C-A
gnomAD v3:
11-94456323-C-A
gnomAD v4:
11-94456323-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94456323C>A , CM000673.2:g.94456323C>A | GRCh38 |
| NC_000011.9:g.94189489C>A , CM000673.1:g.94189489C>A | GRCh37 |
| NC_000011.8:g.93829137C>A | NCBI36 |
| NG_007261.1:g.42552G>T , LRG_85:g.42552G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1516G>T MANE Select | ENSP00000325863.4:p.Glu506Ter | |
| ENST00000323929.7:c.1516G>T | ENSP00000325863.3:p.Glu506Ter | |
| ENST00000323977.7:c.1516G>T | ENSP00000326094.3:p.Glu506Ter | |
| ENST00000393241.8:c.1516G>T | ENSP00000376933.4:p.Glu506Ter | |
| ENST00000407439.7:c.1525G>T | ENSP00000385614.3:p.Glu509Ter | |
| NM_005590.3:c.1516G>T | NP_005581.2:p.Glu506Ter | |
| NM_005591.3:c.1516G>T , LRG_85t1:c.1516G>T | NP_005582.1:p.Glu506Ter | |
| XM_005274008.2:c.1048G>T | XP_005274065.1:p.Glu350Ter | |
| XM_006718842.2:c.1516G>T | XP_006718905.1:p.Glu506Ter | |
| XM_011542837.1:c.1516G>T | XP_011541139.1:p.Glu506Ter | |
| XR_947828.1:n.1812G>T | ||
| NM_001330347.1:c.1516G>T | NP_001317276.1:p.Glu506Ter | |
| XM_005274008.3:c.1048G>T | XP_005274065.1:p.Glu350Ter | |
| XM_006718842.3:c.1516G>T | XP_006718905.1:p.Glu506Ter | |
| XM_011542837.2:c.1516G>T | XP_011541139.1:p.Glu506Ter | |
| XM_017017772.1:c.1516G>T | XP_016873261.1:p.Glu506Ter | |
| XR_947828.2:n.1812G>T | ||
| NM_001330347.2:c.1516G>T | NP_001317276.1:p.Glu506Ter | |
| NM_005590.4:c.1516G>T | NP_005581.2:p.Glu506Ter | |
| NM_005591.4:c.1516G>T MANE Select | NP_005582.1:p.Glu506Ter |