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:
2925345
ClinVar RCV Id:
RCV003780999
dbSNP Id:
rs2125128508
COSMIC:
COSM6444470
CIViC:
CA351754382
PCER:
P-CER:CA351754382/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146628C>T , CM000665.2:g.10146628C>T | GRCh38 |
| NC_000003.11:g.10188312C>T , CM000665.1:g.10188312C>T | GRCh37 |
| NC_000003.10:g.10163312C>T | NCBI36 |
| NG_008212.3:g.9994C>T , LRG_322:g.9994C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*132C>T | ENSP00000512434.1:n.*132C>T | |
| ENST00000696143.1:c.600-3159C>T | ENSP00000512435.1:n.600-3159C>T | |
| ENST00000696153.1:c.455C>T | ENSP00000512444.1:p.Thr152Ile | |
| ENST00000256474.3:c.455C>T MANE Select | ENSP00000256474.3:p.Thr152Ile | |
| ENST00000256474.2:c.455C>T | ENSP00000256474.2:p.Thr152Ile | |
| ENST00000345392.2:c.341-3159C>T | ENSP00000344757.2:n.341-3159C>T | |
| ENST00000477538.1:n.591C>T | ||
| NM_000551.3:c.455C>T , LRG_322t1:c.455C>T | NP_000542.1:p.Thr152Ile | |
| NM_198156.2:c.341-3159C>T | NP_937799.1:n.341-3159C>T | |
| NM_001354723.1:c.*18-3159C>T | NP_001341652.1:n.*18-3159C>T | |
| NM_000551.4:c.455C>T MANE Select | NP_000542.1:p.Thr152Ile | |
| NM_001354723.2:c.*18-3159C>T | NP_001341652.1:n.*18-3159C>T | |
| NM_198156.3:c.341-3159C>T | NP_937799.1:n.341-3159C>T |