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:
816689
dbSNP Id:
rs780178275
ExAC:
3:10188270 C / T
gnomAD v2:
3-10188270-C-T
gnomAD v4:
3-10146586-C-T
COSMIC:
COSM1417309
CIViC:
CA040861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146586C>T , CM000665.2:g.10146586C>T | GRCh38 |
| NC_000003.11:g.10188270C>T , CM000665.1:g.10188270C>T | GRCh37 |
| NC_000003.10:g.10163270C>T | NCBI36 |
| NG_008212.3:g.9952C>T , LRG_322:g.9952C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*90C>T | ENSP00000512434.1:n.*90C>T | |
| ENST00000696143.1:c.600-3201C>T | ENSP00000512435.1:n.600-3201C>T | |
| ENST00000696153.1:c.413C>T | ENSP00000512444.1:p.Pro138Leu | |
| ENST00000256474.3:c.413C>T MANE Select | ENSP00000256474.3:p.Pro138Leu | |
| ENST00000256474.2:c.413C>T | ENSP00000256474.2:p.Pro138Leu | |
| ENST00000345392.2:c.341-3201C>T | ENSP00000344757.2:n.341-3201C>T | |
| ENST00000477538.1:n.549C>T | ||
| NM_000551.3:c.413C>T , LRG_322t1:c.413C>T | NP_000542.1:p.Pro138Leu | |
| NM_198156.2:c.341-3201C>T | NP_937799.1:n.341-3201C>T | |
| XM_011534078.1:c.*90C>T | XP_011532380.1:n.*90C>T | |
| NM_001354723.1:c.*18-3201C>T | NP_001341652.1:n.*18-3201C>T | |
| NM_000551.4:c.413C>T MANE Select | NP_000542.1:p.Pro138Leu | |
| NM_001354723.2:c.*18-3201C>T | NP_001341652.1:n.*18-3201C>T | |
| NM_198156.3:c.341-3201C>T | NP_937799.1:n.341-3201C>T |