Linked Data
ClinVar Variation Id:
648707
ClinVar RCV Id:
RCV000803498
dbSNP Id:
rs1569081347
gnomAD v3:
22-50627276-G-C
gnomAD v4:
22-50627276-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50627276G>C , CM000684.2:g.50627276G>C | GRCh38 |
| NC_000022.10:g.51065704G>C , CM000684.1:g.51065704G>C | GRCh37 |
| NC_000022.9:g.49412570G>C | NCBI36 |
| NG_009260.2:g.5904C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.355C>G MANE Select | ENSP00000216124.5:p.Leu119Val | |
| ENST00000216124.9:c.355C>G | ENSP00000216124.5:p.Leu119Val | |
| ENST00000356098.9:c.355C>G | ENSP00000348406.5:p.Leu119Val | |
| ENST00000395619.3:c.355C>G | ENSP00000378981.3:p.Leu119Val | |
| ENST00000395621.7:c.355C>G | ENSP00000378983.3:p.Leu119Val | |
| ENST00000453344.6:c.97C>G | ENSP00000412542.2:p.Leu33Val | |
| ENST00000551731.1:n.746C>G | ||
| NM_000487.5:c.355C>G | NP_000478.3:p.Leu119Val | |
| NM_001085425.2:c.355C>G | NP_001078894.2:p.Leu119Val | |
| NM_001085426.2:c.355C>G | NP_001078895.2:p.Leu119Val | |
| NM_001085427.2:c.355C>G | NP_001078896.2:p.Leu119Val | |
| NM_001085428.2:c.97C>G | NP_001078897.1:p.Leu33Val | |
| XM_011530690.1:c.97C>G | XP_011528992.1:p.Leu33Val | |
| XM_011530691.1:c.355C>G | XP_011528993.1:p.Leu119Val | |
| NM_001362782.1:c.97C>G | NP_001349711.1:p.Leu33Val | |
| XM_011530691.3:c.355C>G | XP_011528993.1:p.Leu119Val | |
| XM_017028800.1:c.355C>G | XP_016884289.1:p.Leu119Val | |
| XM_024452241.1:c.355C>G | XP_024308009.1:p.Leu119Val | |
| NM_000487.6:c.355C>G MANE Select | NP_000478.3:p.Leu119Val | |
| NM_001085425.3:c.355C>G | NP_001078894.2:p.Leu119Val | |
| NM_001085426.3:c.355C>G | NP_001078895.2:p.Leu119Val | |
| NM_001085427.3:c.355C>G | NP_001078896.2:p.Leu119Val | |
| NM_001085428.3:c.97C>G | NP_001078897.1:p.Leu33Val | |
| NM_001362782.2:c.97C>G | NP_001349711.1:p.Leu33Val |