Linked Data
ClinVar Variation Id:
1043068
ClinVar RCV Id:
RCV001347122
dbSNP Id:
rs1248772829
gnomAD v2:
19-39070671-A-G
gnomAD v4:
19-38580031-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580031A>G , CM000681.2:g.38580031A>G | GRCh38 |
| NC_000019.9:g.39070671A>G , CM000681.1:g.39070671A>G | GRCh37 |
| NC_000019.8:g.43762511A>G | NCBI36 |
| NG_008866.1:g.151332A>G , LRG_766:g.151332A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1350A>G | ||
| ENST00000688602.1:c.2747A>G | ||
| ENST00000689936.1:c.2719A>G | ||
| ENST00000359596.8:c.14414A>G MANE Select | ENSP00000352608.2:p.Tyr4805Cys | |
| ENST00000355481.8:c.14399A>G | ENSP00000347667.3:p.Tyr4800Cys | |
| ENST00000359596.7:c.14414A>G | ENSP00000352608.2:p.Tyr4805Cys | |
| ENST00000360985.7:c.14396A>G | ENSP00000354254.4:p.Tyr4799Cys | |
| NM_000540.2:c.14414A>G , LRG_766t1:c.14414A>G | NP_000531.2:p.Tyr4805Cys | |
| NM_001042723.1:c.14399A>G | NP_001036188.1:p.Tyr4800Cys | |
| XM_006723317.1:c.14396A>G | XP_006723380.1:p.Tyr4799Cys | |
| XM_006723319.1:c.14381A>G | XP_006723382.1:p.Tyr4794Cys | |
| XM_011527204.1:c.14411A>G | XP_011525506.1:p.Tyr4804Cys | |
| XM_011527205.1:c.14327A>G | XP_011525507.1:p.Tyr4776Cys | |
| XM_006723317.2:c.14396A>G | XP_006723380.1:p.Tyr4799Cys | |
| XM_006723319.2:c.14381A>G | XP_006723382.1:p.Tyr4794Cys | |
| XM_011527205.2:c.14327A>G | XP_011525507.1:p.Tyr4776Cys | |
| NM_000540.3:c.14414A>G MANE Select | NP_000531.2:p.Tyr4805Cys | |
| NM_001042723.2:c.14399A>G | NP_001036188.1:p.Tyr4800Cys |