UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
505302
dbSNP Id:
rs956666801
gnomAD v4:
1-40819463-G-C
ERepo:
CA21112664/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40819463G>C , CM000663.2:g.40819463G>C | GRCh38 |
| NC_000001.10:g.41285135G>C , CM000663.1:g.41285135G>C | GRCh37 |
| NC_000001.9:g.41057722G>C | NCBI36 |
| NG_008139.1:g.40452G>C | |
| NG_008139.2:g.40452G>C | |
| NG_008139.3:g.40677G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347132.10:c.825G>C MANE Select | ENSP00000262916.6:p.Trp275Cys | |
| ENST00000347132.9:c.825G>C | ENSP00000262916.6:p.Trp275Cys | |
| ENST00000443478.3:c.511G>C | ||
| ENST00000506017.1:n.144G>C | ||
| ENST00000509682.6:c.825G>C | ENSP00000423756.2:p.Trp275Cys | |
| NM_004700.3:c.825G>C | NP_004691.2:p.Trp275Cys | |
| NM_172163.2:c.825G>C | NP_751895.1:p.Trp275Cys | |
| XM_011542417.1:c.825G>C | XP_011540719.1:p.Trp275Cys | |
| XM_011542418.1:c.825G>C | XP_011540720.1:p.Trp275Cys | |
| XM_011542419.1:c.825G>C | XP_011540721.1:p.Trp275Cys | |
| XM_011542420.1:c.825G>C | XP_011540722.1:p.Trp275Cys | |
| XR_946798.1:n.831G>C | ||
| XR_946799.1:n.831G>C | ||
| XR_946800.1:n.831G>C | ||
| XM_017002792.1:c.-193G>C | XP_016858281.1:n.-193G>C | |
| NM_004700.4:c.825G>C MANE Select | NP_004691.2:p.Trp275Cys | |
| NM_172163.3:c.825G>C | NP_751895.1:p.Trp275Cys |