Linked Data
ClinVar Variation Id:
133027
ClinVar RCV Id:
RCV000119447
dbSNP Id:
rs193922843
gnomAD v4:
19-38543832-G-T
PubMed:
PMID:16917943
ERepo:
CA023953/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543832G>T , CM000681.2:g.38543832G>T | GRCh38 |
| NC_000019.9:g.39034472G>T , CM000681.1:g.39034472G>T | GRCh37 |
| NC_000019.8:g.43726312G>T | NCBI36 |
| NG_008866.1:g.115133G>T , LRG_766:g.115133G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688602.1:c.379G>T | ||
| ENST00000689936.1:c.361G>T | ||
| ENST00000359596.8:c.11969G>T MANE Select | ENSP00000352608.2:p.Gly3990Val | |
| ENST00000355481.8:c.11954G>T | ENSP00000347667.3:p.Gly3985Val | |
| ENST00000359596.7:c.11969G>T | ENSP00000352608.2:p.Gly3990Val | |
| ENST00000360985.7:c.11951G>T | ENSP00000354254.4:p.Gly3984Val | |
| ENST00000593322.1:c.578G>T | ||
| ENST00000594335.5:c.5338G>T | ||
| NM_000540.2:c.11969G>T , LRG_766t1:c.11969G>T | NP_000531.2:p.Gly3990Val | |
| NM_001042723.1:c.11954G>T | NP_001036188.1:p.Gly3985Val | |
| XM_006723317.1:c.11951G>T | XP_006723380.1:p.Gly3984Val | |
| XM_006723319.1:c.11936G>T | XP_006723382.1:p.Gly3979Val | |
| XM_011527204.1:c.11966G>T | XP_011525506.1:p.Gly3989Val | |
| XM_011527205.1:c.11969G>T | XP_011525507.1:p.Gly3990Val | |
| XM_006723317.2:c.11951G>T | XP_006723380.1:p.Gly3984Val | |
| XM_006723319.2:c.11936G>T | XP_006723382.1:p.Gly3979Val | |
| XM_011527205.2:c.11969G>T | XP_011525507.1:p.Gly3990Val | |
| NM_000540.3:c.11969G>T MANE Select | NP_000531.2:p.Gly3990Val | |
| NM_001042723.2:c.11954G>T | NP_001036188.1:p.Gly3985Val |