Linked Data
ClinVar Variation Id:
703468
ClinVar RCV Id:
RCV000873082
dbSNP Id:
rs200567315
ExAC:
22:51064589 G / A
gnomAD v2:
22-51064589-G-A
gnomAD v3:
22-50626161-G-A
gnomAD v4:
22-50626161-G-A
COSMIC:
COSM4901974
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50626161G>A , CM000684.2:g.50626161G>A | GRCh38 |
| NC_000022.10:g.51064589G>A , CM000684.1:g.51064589G>A | GRCh37 |
| NC_000022.9:g.49411455G>A | NCBI36 |
| NG_009260.2:g.7019C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.972C>T MANE Select | ENSP00000216124.5:p.Ile324= | |
| ENST00000216124.9:c.972C>T | ENSP00000216124.5:p.Ile324= | |
| ENST00000356098.9:c.972C>T | ENSP00000348406.5:p.Ile324= | |
| ENST00000395619.3:c.972C>T | ENSP00000378981.3:p.Ile324= | |
| ENST00000395621.7:c.972C>T | ENSP00000378983.3:p.Ile324= | |
| ENST00000453344.6:c.714C>T | ENSP00000412542.2:p.Ile238= | |
| NM_000487.5:c.972C>T | NP_000478.3:p.Ile324= | |
| NM_001085425.2:c.972C>T | NP_001078894.2:p.Ile324= | |
| NM_001085426.2:c.972C>T | NP_001078895.2:p.Ile324= | |
| NM_001085427.2:c.972C>T | NP_001078896.2:p.Ile324= | |
| NM_001085428.2:c.714C>T | NP_001078897.1:p.Ile238= | |
| XM_011530690.1:c.714C>T | XP_011528992.1:p.Ile238= | |
| XM_011530691.1:c.972C>T | XP_011528993.1:p.Ile324= | |
| NM_001362782.1:c.714C>T | NP_001349711.1:p.Ile238= | |
| XM_011530691.3:c.972C>T | XP_011528993.1:p.Ile324= | |
| XM_017028800.1:c.972C>T | XP_016884289.1:p.Ile324= | |
| XM_024452241.1:c.972C>T | XP_024308009.1:p.Ile324= | |
| NM_000487.6:c.972C>T MANE Select | NP_000478.3:p.Ile324= | |
| NM_001085425.3:c.972C>T | NP_001078894.2:p.Ile324= | |
| NM_001085426.3:c.972C>T | NP_001078895.2:p.Ile324= | |
| NM_001085427.3:c.972C>T | NP_001078896.2:p.Ile324= | |
| NM_001085428.3:c.714C>T | NP_001078897.1:p.Ile238= | |
| NM_001362782.2:c.714C>T | NP_001349711.1:p.Ile238= |