Linked Data
ClinVar Variation Id:
2649801
ClinVar RCV Id:
RCV003406959
dbSNP Id:
rs375128412
ExAC:
19:38991342 C / G
gnomAD v2:
19-38991342-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38500702C>G , CM000681.2:g.38500702C>G | GRCh38 |
| NC_000019.9:g.38991342C>G , CM000681.1:g.38991342C>G | GRCh37 |
| NC_000019.8:g.43683182C>G | NCBI36 |
| NG_008866.1:g.72003C>G , LRG_766:g.72003C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7420C>G | ENSP00000471601.2:p.Leu2474Val | |
| ENST00000359596.8:c.7420C>G MANE Select | ENSP00000352608.2:p.Leu2474Val | |
| ENST00000355481.8:c.7420C>G | ENSP00000347667.3:p.Leu2474Val | |
| ENST00000359596.7:c.7420C>G | ENSP00000352608.2:p.Leu2474Val | |
| ENST00000360985.7:c.7417C>G | ENSP00000354254.4:p.Leu2473Val | |
| ENST00000594335.5:c.872C>G | ||
| NM_000540.2:c.7420C>G , LRG_766t1:c.7420C>G | NP_000531.2:p.Leu2474Val | |
| NM_001042723.1:c.7420C>G | NP_001036188.1:p.Leu2474Val | |
| XM_006723317.1:c.7420C>G | XP_006723380.1:p.Leu2474Val | |
| XM_006723319.1:c.7420C>G | XP_006723382.1:p.Leu2474Val | |
| XM_011527204.1:c.7417C>G | XP_011525506.1:p.Leu2473Val | |
| XM_011527205.1:c.7420C>G | XP_011525507.1:p.Leu2474Val | |
| XM_006723317.2:c.7420C>G | XP_006723380.1:p.Leu2474Val | |
| XM_006723319.2:c.7420C>G | XP_006723382.1:p.Leu2474Val | |
| XM_011527205.2:c.7420C>G | XP_011525507.1:p.Leu2474Val | |
| XR_001753735.1:n.7503C>G | ||
| NM_000540.3:c.7420C>G MANE Select | NP_000531.2:p.Leu2474Val | |
| NM_001042723.2:c.7420C>G | NP_001036188.1:p.Leu2474Val |