Linked Data
ClinVar Variation Id:
2234
dbSNP Id:
rs28940300
ExAC:
3:10191581 C / T
gnomAD v2:
3-10191581-C-T
gnomAD v4:
3-10149897-C-T
COSMIC:
COSM18386
CIViC:
CA020501
PubMed:
PMID:12393546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149897C>T , CM000665.2:g.10149897C>T | GRCh38 |
| NC_000003.11:g.10191581C>T , CM000665.1:g.10191581C>T | GRCh37 |
| NC_000003.10:g.10166581C>T | NCBI36 |
| NG_008212.3:g.13263C>T , LRG_322:g.13263C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*251C>T | ENSP00000512434.1:n.*251C>T | |
| ENST00000696143.1:c.710C>T | ENSP00000512435.1:n.710C>T | |
| ENST00000696153.1:c.685C>T | ENSP00000512444.1:p.Pro229Ser | |
| ENST00000256474.3:c.574C>T MANE Select | ENSP00000256474.3:p.Pro192Ser | |
| ENST00000256474.2:c.574C>T | ENSP00000256474.2:p.Pro192Ser | |
| ENST00000345392.2:c.451C>T | ENSP00000344757.2:p.Pro151Ser | |
| ENST00000477538.1:n.710C>T | ||
| NM_000551.3:c.574C>T , LRG_322t1:c.574C>T | NP_000542.1:p.Pro192Ser | |
| NM_198156.2:c.451C>T | NP_937799.1:p.Pro151Ser | |
| NM_001354723.1:c.*128C>T | NP_001341652.1:n.*128C>T | |
| NM_000551.4:c.574C>T MANE Select | NP_000542.1:p.Pro192Ser | |
| NM_001354723.2:c.*128C>T | NP_001341652.1:n.*128C>T | |
| NM_198156.3:c.451C>T | NP_937799.1:p.Pro151Ser |