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:
223162
dbSNP Id:
rs869025617
gnomAD v4:
3-10142050-C-A
COSMIC:
COSM14372
CIViC:
CA357051
PCER:
P-CER:CA357051/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142050C>A , CM000665.2:g.10142050C>A | GRCh38 |
| NC_000003.11:g.10183734C>A , CM000665.1:g.10183734C>A | GRCh37 |
| NC_000003.10:g.10158734C>A | NCBI36 |
| NG_008212.3:g.5416C>A , LRG_322:g.5416C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.203C>A | ENSP00000512434.1:p.Ser68Ter | |
| ENST00000696143.1:c.203C>A | ENSP00000512435.1:p.Ser68Ter | |
| ENST00000696153.1:c.203C>A | ENSP00000512444.1:p.Ser68Ter | |
| ENST00000256474.3:c.203C>A MANE Select | ENSP00000256474.3:p.Ser68Ter | |
| ENST00000256474.2:c.203C>A | ENSP00000256474.2:p.Ser68Ter | |
| ENST00000345392.2:c.203C>A | ENSP00000344757.2:p.Ser68Ter | |
| NM_000551.3:c.203C>A , LRG_322t1:c.203C>A | NP_000542.1:p.Ser68Ter | |
| NM_198156.2:c.203C>A | NP_937799.1:p.Ser68Ter | |
| XM_011534078.1:c.203C>A | XP_011532380.1:p.Ser68Ter | |
| NM_001354723.1:c.203C>A | NP_001341652.1:p.Ser68Ter | |
| NM_000551.4:c.203C>A MANE Select | NP_000542.1:p.Ser68Ter | |
| NM_001354723.2:c.203C>A | NP_001341652.1:p.Ser68Ter | |
| NM_198156.3:c.203C>A | NP_937799.1:p.Ser68Ter |