Linked Data
ClinVar Variation Id:
2221
ClinVar RCV Id:
RCV000002307
dbSNP Id:
rs119103278
COSMIC:
COSM18416
PubMed:
PMID:8069849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146578A>C , CM000665.2:g.10146578A>C | GRCh38 |
| NC_000003.11:g.10188262A>C , CM000665.1:g.10188262A>C | GRCh37 |
| NC_000003.10:g.10163262A>C | NCBI36 |
| NG_008212.3:g.9944A>C , LRG_322:g.9944A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*82A>C | ENSP00000512434.1:n.*82A>C | |
| ENST00000696143.1:c.600-3209A>C | ENSP00000512435.1:n.600-3209A>C | |
| ENST00000696153.1:c.405A>C | ENSP00000512444.1:p.Leu135Phe | |
| ENST00000256474.3:c.405A>C MANE Select | ENSP00000256474.3:p.Leu135Phe | |
| ENST00000256474.2:c.405A>C | ENSP00000256474.2:p.Leu135Phe | |
| ENST00000345392.2:c.341-3209A>C | ENSP00000344757.2:n.341-3209A>C | |
| ENST00000477538.1:n.541A>C | ||
| NM_000551.3:c.405A>C , LRG_322t1:c.405A>C | NP_000542.1:p.Leu135Phe | |
| NM_198156.2:c.341-3209A>C | NP_937799.1:n.341-3209A>C | |
| XM_011534078.1:c.*82A>C | XP_011532380.1:n.*82A>C | |
| NM_001354723.1:c.*18-3209A>C | NP_001341652.1:n.*18-3209A>C | |
| NM_000551.4:c.405A>C MANE Select | NP_000542.1:p.Leu135Phe | |
| NM_001354723.2:c.*18-3209A>C | NP_001341652.1:n.*18-3209A>C | |
| NM_198156.3:c.341-3209A>C | NP_937799.1:n.341-3209A>C |