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:
526685
ClinVar RCV Id:
RCV000631284
dbSNP Id:
rs5030821
COSMIC:
COSM4189068
PCER:
P-CER:CA351756178/193300
CIViC:
CA351756178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149823G>T , CM000665.2:g.10149823G>T | GRCh38 |
| NC_000003.11:g.10191507G>T , CM000665.1:g.10191507G>T | GRCh37 |
| NC_000003.10:g.10166507G>T | NCBI36 |
| NG_008212.3:g.13189G>T , LRG_322:g.13189G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*177G>T | ENSP00000512434.1:n.*177G>T | |
| ENST00000696143.1:c.636G>T | ENSP00000512435.1:n.636G>T | |
| ENST00000696153.1:c.611G>T | ENSP00000512444.1:p.Arg204Leu | |
| ENST00000256474.3:c.500G>T MANE Select | ENSP00000256474.3:p.Arg167Leu | |
| ENST00000256474.2:c.500G>T | ENSP00000256474.2:p.Arg167Leu | |
| ENST00000345392.2:c.377G>T | ENSP00000344757.2:p.Arg126Leu | |
| ENST00000477538.1:n.636G>T | ||
| NM_000551.3:c.500G>T , LRG_322t1:c.500G>T | NP_000542.1:p.Arg167Leu | |
| NM_198156.2:c.377G>T | NP_937799.1:p.Arg126Leu | |
| NM_001354723.1:c.*54G>T | NP_001341652.1:n.*54G>T | |
| NM_000551.4:c.500G>T MANE Select | NP_000542.1:p.Arg167Leu | |
| NM_001354723.2:c.*54G>T | NP_001341652.1:n.*54G>T | |
| NM_198156.3:c.377G>T | NP_937799.1:p.Arg126Leu |