Linked Data
ClinVar Variation Id:
329112
dbSNP Id:
rs571477269
gnomAD v2:
19-39037156-G-T
gnomAD v4:
19-38546516-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38546516G>T , CM000681.2:g.38546516G>T | GRCh38 |
| NC_000019.9:g.39037156G>T , CM000681.1:g.39037156G>T | GRCh37 |
| NC_000019.8:g.43728996G>T | NCBI36 |
| NG_008866.1:g.117817G>T , LRG_766:g.117817G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.494G>T | ||
| ENST00000689936.1:c.476G>T | ||
| ENST00000359596.8:c.12084G>T MANE Select | ENSP00000352608.2:p.Ser4028= | |
| ENST00000355481.8:c.12069G>T | ENSP00000347667.3:p.Ser4023= | |
| ENST00000359596.7:c.12084G>T | ENSP00000352608.2:p.Ser4028= | |
| ENST00000360985.7:c.12066G>T | ENSP00000354254.4:p.Ser4022= | |
| ENST00000593322.1:c.693G>T | ||
| ENST00000594335.5:c.5453G>T | ||
| NM_000540.2:c.12084G>T , LRG_766t1:c.12084G>T | NP_000531.2:p.Ser4028= | |
| NM_001042723.1:c.12069G>T | NP_001036188.1:p.Ser4023= | |
| XM_006723317.1:c.12066G>T | XP_006723380.1:p.Ser4022= | |
| XM_006723319.1:c.12051G>T | XP_006723382.1:p.Ser4017= | |
| XM_011527204.1:c.12081G>T | XP_011525506.1:p.Ser4027= | |
| XM_011527205.1:c.12084G>T | XP_011525507.1:p.Ser4028= | |
| XM_006723317.2:c.12066G>T | XP_006723380.1:p.Ser4022= | |
| XM_006723319.2:c.12051G>T | XP_006723382.1:p.Ser4017= | |
| XM_011527205.2:c.12084G>T | XP_011525507.1:p.Ser4028= | |
| NM_000540.3:c.12084G>T MANE Select | NP_000531.2:p.Ser4028= | |
| NM_001042723.2:c.12069G>T | NP_001036188.1:p.Ser4023= |