Linked Data
ClinVar Variation Id:
433177
ClinVar RCV Id:
RCV000499002
dbSNP Id:
rs758247804
gnomAD v4:
19-38525496-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38525496C>G , CM000681.2:g.38525496C>G | GRCh38 |
| NC_000019.9:g.39016136C>G , CM000681.1:g.39016136C>G | GRCh37 |
| NC_000019.8:g.43707976C>G | NCBI36 |
| NG_008866.1:g.96797C>G , LRG_766:g.96797C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.10559C>G | ENSP00000471601.2:n.10559C>G | |
| ENST00000359596.8:c.10620C>G MANE Select | ENSP00000352608.2:p.Tyr3540Ter | |
| ENST00000355481.8:c.10605C>G | ENSP00000347667.3:p.Tyr3535Ter | |
| ENST00000359596.7:c.10620C>G | ENSP00000352608.2:p.Tyr3540Ter | |
| ENST00000360985.7:c.10602C>G | ENSP00000354254.4:p.Tyr3534Ter | |
| ENST00000594335.5:c.4007C>G | ||
| ENST00000599547.5:c.1427C>G | ||
| NM_000540.2:c.10620C>G , LRG_766t1:c.10620C>G | NP_000531.2:p.Tyr3540Ter | |
| NM_001042723.1:c.10605C>G | NP_001036188.1:p.Tyr3535Ter | |
| XM_006723317.1:c.10620C>G | XP_006723380.1:p.Tyr3540Ter | |
| XM_006723319.1:c.10605C>G | XP_006723382.1:p.Tyr3535Ter | |
| XM_011527204.1:c.10617C>G | XP_011525506.1:p.Tyr3539Ter | |
| XM_011527205.1:c.10620C>G | XP_011525507.1:p.Tyr3540Ter | |
| XM_006723317.2:c.10620C>G | XP_006723380.1:p.Tyr3540Ter | |
| XM_006723319.2:c.10605C>G | XP_006723382.1:p.Tyr3535Ter | |
| XM_011527205.2:c.10620C>G | XP_011525507.1:p.Tyr3540Ter | |
| NM_000540.3:c.10620C>G MANE Select | NP_000531.2:p.Tyr3540Ter | |
| NM_001042723.2:c.10605C>G | NP_001036188.1:p.Tyr3535Ter |