Linked Data
ClinVar Variation Id:
199203
dbSNP Id:
rs772494345
ExAC:
19:39051969 G / T
gnomAD v2:
19-39051969-G-T
gnomAD v4:
19-38561329-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38561329G>T , CM000681.2:g.38561329G>T | GRCh38 |
| NC_000019.9:g.39051969G>T , CM000681.1:g.39051969G>T | GRCh37 |
| NC_000019.8:g.43743809G>T | NCBI36 |
| NG_008866.1:g.132630G>T , LRG_766:g.132630G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.909G>T | ||
| ENST00000689936.1:c.891G>T | ||
| ENST00000359596.8:c.12499G>T MANE Select | ENSP00000352608.2:p.Glu4167Ter | |
| ENST00000355481.8:c.12484G>T | ENSP00000347667.3:p.Glu4162Ter | |
| ENST00000359596.7:c.12499G>T | ENSP00000352608.2:p.Glu4167Ter | |
| ENST00000360985.7:c.12481G>T | ENSP00000354254.4:p.Glu4161Ter | |
| ENST00000594335.5:c.5868G>T | ||
| NM_000540.2:c.12499G>T , LRG_766t1:c.12499G>T | NP_000531.2:p.Glu4167Ter | |
| NM_001042723.1:c.12484G>T | NP_001036188.1:p.Glu4162Ter | |
| XM_006723317.1:c.12481G>T | XP_006723380.1:p.Glu4161Ter | |
| XM_006723319.1:c.12466G>T | XP_006723382.1:p.Glu4156Ter | |
| XM_011527204.1:c.12496G>T | XP_011525506.1:p.Glu4166Ter | |
| XM_011527205.1:c.12499G>T | XP_011525507.1:p.Glu4167Ter | |
| XM_006723317.2:c.12481G>T | XP_006723380.1:p.Glu4161Ter | |
| XM_006723319.2:c.12466G>T | XP_006723382.1:p.Glu4156Ter | |
| XM_011527205.2:c.12499G>T | XP_011525507.1:p.Glu4167Ter | |
| NM_000540.3:c.12499G>T MANE Select | NP_000531.2:p.Glu4167Ter | |
| NM_001042723.2:c.12484G>T | NP_001036188.1:p.Glu4162Ter |