Linked Data
ClinVar Variation Id:
481768
dbSNP Id:
rs774145193
gnomAD v2:
11-94192578-T-A
gnomAD v4:
11-94459412-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94459412T>A , CM000673.2:g.94459412T>A | GRCh38 |
| NC_000011.9:g.94192578T>A , CM000673.1:g.94192578T>A | GRCh37 |
| NC_000011.8:g.93832226T>A | NCBI36 |
| NG_007261.1:g.39463A>T , LRG_85:g.39463A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.1496A>T MANE Select | ENSP00000325863.4:p.Glu499Val | |
| ENST00000323929.7:c.1496A>T | ENSP00000325863.3:p.Glu499Val | |
| ENST00000323977.7:c.1496A>T | ENSP00000326094.3:p.Glu499Val | |
| ENST00000393241.8:c.1496A>T | ENSP00000376933.4:p.Glu499Val | |
| ENST00000407439.7:c.1505A>T | ENSP00000385614.3:p.Glu502Val | |
| NM_005590.3:c.1496A>T | NP_005581.2:p.Glu499Val | |
| NM_005591.3:c.1496A>T , LRG_85t1:c.1496A>T | NP_005582.1:p.Glu499Val | |
| XM_005274008.2:c.1028A>T | XP_005274065.1:p.Glu343Val | |
| XM_006718842.2:c.1496A>T | XP_006718905.1:p.Glu499Val | |
| XM_011542837.1:c.1496A>T | XP_011541139.1:p.Glu499Val | |
| XR_947828.1:n.1792A>T | ||
| NM_001330347.1:c.1496A>T | NP_001317276.1:p.Glu499Val | |
| XM_005274008.3:c.1028A>T | XP_005274065.1:p.Glu343Val | |
| XM_006718842.3:c.1496A>T | XP_006718905.1:p.Glu499Val | |
| XM_011542837.2:c.1496A>T | XP_011541139.1:p.Glu499Val | |
| XM_017017772.1:c.1496A>T | XP_016873261.1:p.Glu499Val | |
| XR_947828.2:n.1792A>T | ||
| NM_001330347.2:c.1496A>T | NP_001317276.1:p.Glu499Val | |
| NM_005590.4:c.1496A>T | NP_005581.2:p.Glu499Val | |
| NM_005591.4:c.1496A>T MANE Select | NP_005582.1:p.Glu499Val |