Linked Data
ClinVar Variation Id:
44734
ClinVar RCV Id:
RCV000037833
dbSNP Id:
rs397516872
COSMIC:
COSM6000872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189301T>A , CM000675.2:g.20189301T>A | GRCh38 |
| NC_000013.10:g.20763440T>A , CM000675.1:g.20763440T>A | GRCh37 |
| NC_000013.9:g.19661440T>A | NCBI36 |
| NG_008358.1:g.8675A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.281A>T | ENSP00000372295.1:p.His94Leu | |
| ENST00000382848.5:c.281A>T MANE Select | ENSP00000372299.4:p.His94Leu | |
| ENST00000382844.1:c.281A>T | ENSP00000372295.1:p.His94Leu | |
| ENST00000382848.4:c.281A>T | ENSP00000372299.4:p.His94Leu | |
| NM_004004.5:c.281A>T | NP_003995.2:p.His94Leu | |
| XM_011535049.1:c.281A>T | XP_011533351.1:p.His94Leu | |
| XM_011535049.2:c.281A>T | XP_011533351.1:p.His94Leu | |
| NM_004004.6:c.281A>T MANE Select | NP_003995.2:p.His94Leu |