Linked Data
ClinVar Variation Id:
2173390
ClinVar RCV Id:
RCV002581888
dbSNP Id:
rs878992768
gnomAD v2:
22-51063611-G-A
gnomAD v3:
22-50625183-G-A
gnomAD v4:
22-50625183-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625183G>A , CM000684.2:g.50625183G>A | GRCh38 |
| NC_000022.10:g.51063611G>A , CM000684.1:g.51063611G>A | GRCh37 |
| NC_000022.9:g.49410477G>A | NCBI36 |
| NG_009260.2:g.7997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216124.10:c.1492C>T MANE Select | ENSP00000216124.5:p.Arg498Cys | |
| ENST00000216124.9:c.1492C>T | ENSP00000216124.5:p.Arg498Cys | |
| ENST00000356098.9:c.1492C>T | ENSP00000348406.5:p.Arg498Cys | |
| ENST00000395619.3:c.1492C>T | ENSP00000378981.3:p.Arg498Cys | |
| ENST00000395621.7:c.1492C>T | ENSP00000378983.3:p.Arg498Cys | |
| ENST00000453344.6:c.1234C>T | ENSP00000412542.2:p.Arg412Cys | |
| ENST00000608497.1:c.180+180C>T | ||
| NM_000487.5:c.1492C>T | NP_000478.3:p.Arg498Cys | |
| NM_001085425.2:c.1492C>T | NP_001078894.2:p.Arg498Cys | |
| NM_001085426.2:c.1492C>T | NP_001078895.2:p.Arg498Cys | |
| NM_001085427.2:c.1492C>T | NP_001078896.2:p.Arg498Cys | |
| NM_001085428.2:c.1234C>T | NP_001078897.1:p.Arg412Cys | |
| XM_011530690.1:c.1234C>T | XP_011528992.1:p.Arg412Cys | |
| XM_011530691.1:c.*225C>T | XP_011528993.1:n.*225C>T | |
| NM_001362782.1:c.1234C>T | NP_001349711.1:p.Arg412Cys | |
| XM_011530691.3:c.*225C>T | XP_011528993.1:n.*225C>T | |
| XM_017028800.1:c.1606C>T | XP_016884289.1:p.Arg536Cys | |
| XM_024452241.1:c.*225C>T | XP_024308009.1:n.*225C>T | |
| NM_000487.6:c.1492C>T MANE Select | NP_000478.3:p.Arg498Cys | |
| NM_001085425.3:c.1492C>T | NP_001078894.2:p.Arg498Cys | |
| NM_001085426.3:c.1492C>T | NP_001078895.2:p.Arg498Cys | |
| NM_001085427.3:c.1492C>T | NP_001078896.2:p.Arg498Cys | |
| NM_001085428.3:c.1234C>T | NP_001078897.1:p.Arg412Cys | |
| NM_001362782.2:c.1234C>T | NP_001349711.1:p.Arg412Cys |