Linked Data
ClinVar Variation Id:
161639
ClinVar RCV Id:
RCV000149175
dbSNP Id:
rs193921080
COSMIC:
COSM1178257
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.98486749G>T , CM000666.2:g.98486749G>T | GRCh38 |
| NC_000004.11:g.99407900G>T , CM000666.1:g.99407900G>T | GRCh37 |
| NC_000004.10:g.99626923G>T | NCBI36 |
| NG_046902.1:g.176913C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305798.8:c.268C>A MANE Select | ENSP00000307701.3:p.Leu90Ile | |
| ENST00000305798.7:c.268C>A | ENSP00000307701.3:p.Leu90Ile | |
| ENST00000505184.5:c.55C>A | ENSP00000423916.1:p.Leu19Ile | |
| ENST00000507167.1:n.336C>A | ||
| ENST00000508798.5:c.268C>A | ENSP00000421808.1:p.Leu90Ile | |
| ENST00000509168.5:n.246C>A | ||
| ENST00000511651.5:c.55C>A | ENSP00000426248.1:p.Leu19Ile | |
| ENST00000511800.5:c.55C>A | ENSP00000422548.1:p.Leu19Ile | |
| ENST00000515287.5:c.55C>A | ENSP00000423504.1:p.Leu19Ile | |
| ENST00000515440.5:c.240C>A | ||
| NM_005723.3:c.268C>A | NP_005714.2:p.Leu90Ile | |
| XM_005262680.1:c.133-4574C>A | XP_005262737.1:n.133-4574C>A | |
| XR_244617.1:n.703C>A | ||
| XR_001741092.1:n.568-4574C>A | ||
| NM_005723.4:c.268C>A MANE Select | NP_005714.2:p.Leu90Ile |