Linked Data
ClinVar Variation Id:
133094
dbSNP Id:
rs193922896
PubMed:
PMID:12208234
ERepo:
CA024268/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38585959G>T , CM000681.2:g.38585959G>T | GRCh38 |
| NC_000019.9:g.39076599G>T , CM000681.1:g.39076599G>T | GRCh37 |
| NC_000019.8:g.43768439G>T | NCBI36 |
| NG_008866.1:g.157260G>T , LRG_766:g.157260G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1761G>T | ||
| ENST00000688602.1:c.3158G>T | ||
| ENST00000689936.1:c.3130G>T | ||
| ENST00000692547.1:n.218G>T | ||
| ENST00000359596.8:c.14825G>T MANE Select | ENSP00000352608.2:p.Gly4942Val | |
| ENST00000355481.8:c.14810G>T | ENSP00000347667.3:p.Gly4937Val | |
| ENST00000359596.7:c.14825G>T | ENSP00000352608.2:p.Gly4942Val | |
| ENST00000360985.7:c.14807G>T | ENSP00000354254.4:p.Gly4936Val | |
| NM_000540.2:c.14825G>T , LRG_766t1:c.14825G>T | NP_000531.2:p.Gly4942Val | |
| NM_001042723.1:c.14810G>T | NP_001036188.1:p.Gly4937Val | |
| XM_006723317.1:c.14807G>T | XP_006723380.1:p.Gly4936Val | |
| XM_006723319.1:c.14792G>T | XP_006723382.1:p.Gly4931Val | |
| XM_011527204.1:c.14822G>T | XP_011525506.1:p.Gly4941Val | |
| XM_011527205.1:c.14738G>T | XP_011525507.1:p.Gly4913Val | |
| XM_006723317.2:c.14807G>T | XP_006723380.1:p.Gly4936Val | |
| XM_006723319.2:c.14792G>T | XP_006723382.1:p.Gly4931Val | |
| XM_011527205.2:c.14738G>T | XP_011525507.1:p.Gly4913Val | |
| NM_000540.3:c.14825G>T MANE Select | NP_000531.2:p.Gly4942Val | |
| NM_001042723.2:c.14810G>T | NP_001036188.1:p.Gly4937Val |