Linked Data
ClinVar Variation Id:
12979
ClinVar RCV Id:
RCV000013848
RCV000013849
RCV000119509
RCV001060960
RCV001787775
RCV001787776
RCV001787777
RCV001787778
RCV001787779
RCV001787780
RCV001787781
dbSNP Id:
rs118192167
gnomAD v4:
19-38580004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580004A>G , CM000681.2:g.38580004A>G | GRCh38 |
| NC_000019.9:g.39070644A>G , CM000681.1:g.39070644A>G | GRCh37 |
| NC_000019.8:g.43762484A>G | NCBI36 |
| NG_008866.1:g.151305A>G , LRG_766:g.151305A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.1323A>G | ||
| ENST00000688602.1:c.2720A>G | ||
| ENST00000689936.1:c.2692A>G | ||
| ENST00000359596.8:c.14387A>G MANE Select | ENSP00000352608.2:p.Tyr4796Cys | |
| ENST00000355481.8:c.14372A>G | ENSP00000347667.3:p.Tyr4791Cys | |
| ENST00000359596.7:c.14387A>G | ENSP00000352608.2:p.Tyr4796Cys | |
| ENST00000360985.7:c.14369A>G | ENSP00000354254.4:p.Tyr4790Cys | |
| NM_000540.2:c.14387A>G , LRG_766t1:c.14387A>G | NP_000531.2:p.Tyr4796Cys | |
| NM_001042723.1:c.14372A>G | NP_001036188.1:p.Tyr4791Cys | |
| XM_006723317.1:c.14369A>G | XP_006723380.1:p.Tyr4790Cys | |
| XM_006723319.1:c.14354A>G | XP_006723382.1:p.Tyr4785Cys | |
| XM_011527204.1:c.14384A>G | XP_011525506.1:p.Tyr4795Cys | |
| XM_011527205.1:c.14300A>G | XP_011525507.1:p.Tyr4767Cys | |
| XM_006723317.2:c.14369A>G | XP_006723380.1:p.Tyr4790Cys | |
| XM_006723319.2:c.14354A>G | XP_006723382.1:p.Tyr4785Cys | |
| XM_011527205.2:c.14300A>G | XP_011525507.1:p.Tyr4767Cys | |
| NM_000540.3:c.14387A>G MANE Select | NP_000531.2:p.Tyr4796Cys | |
| NM_001042723.2:c.14372A>G | NP_001036188.1:p.Tyr4791Cys |