Linked Data
ClinVar Variation Id:
1878483
ClinVar RCV Id:
RCV002510536
dbSNP Id:
rs1561879315
gnomAD v4:
6-24528117-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24528117A>C , CM000668.2:g.24528117A>C | GRCh38 |
| NC_000006.11:g.24528345A>C , CM000668.1:g.24528345A>C | GRCh37 |
| NC_000006.10:g.24636324A>C | NCBI36 |
| NG_008161.1:g.38149A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1294A>C MANE Select | ENSP00000350191.3:p.Met432Leu | |
| ENST00000479394.2:n.409A>C | ||
| ENST00000672352.1:c.913A>C | ENSP00000500876.1:p.Met305Leu | |
| ENST00000672652.1:c.1257A>C | ||
| ENST00000348925.2:c.1333A>C | ENSP00000314649.3:p.Met445Leu | |
| ENST00000357578.7:c.1294A>C | ENSP00000350191.3:p.Met432Leu | |
| ENST00000479394.1:n.409A>C | ||
| ENST00000491546.5:c.1210A>C | ENSP00000417687.1:p.Met404Leu | |
| NM_001080.3:c.1294A>C MANE Select | NP_001071.1:p.Met432Leu | |
| NM_170740.1:c.1333A>C | NP_733936.1:p.Met445Leu | |
| NM_001368954.1:c.1150A>C | NP_001355883.1:p.Met384Leu |