Linked Data
ClinVar Variation Id:
375889
ClinVar RCV Id:
RCV000418043
RCV000423104
RCV000424309
RCV000424554
RCV000425224
RCV000425475
RCV000430835
RCV000432682
RCV000433807
RCV000433285
RCV000435256
RCV000440464
RCV000441571
RCV000442225
RCV000445003
dbSNP Id:
rs121913500
COSMIC:
COSM28750
CIViC:
CA16602372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208248388C>A , CM000664.2:g.208248388C>A | GRCh38 |
| NC_000002.11:g.209113112C>A , CM000664.1:g.209113112C>A | GRCh37 |
| NC_000002.10:g.208821357C>A | NCBI36 |
| NG_023319.2:g.22687G>T , LRG_610:g.22687G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345146.7:c.395G>T MANE Select | ENSP00000260985.2:p.Arg132Leu | |
| ENST00000345146.6:c.395G>T | ENSP00000260985.2:p.Arg132Leu | |
| ENST00000415282.5:c.395G>T | ENSP00000391075.1:p.Arg132Leu | |
| ENST00000415913.5:c.395G>T | ENSP00000390265.1:p.Arg132Leu | |
| ENST00000446179.5:c.395G>T | ENSP00000410513.1:p.Arg132Leu | |
| ENST00000462386.5:n.608G>T | ||
| NM_001282386.1:c.395G>T , LRG_610t3:c.395G>T | NP_001269315.1:p.Arg132Leu | |
| NM_001282387.1:c.395G>T , LRG_610t2:c.395G>T | NP_001269316.1:p.Arg132Leu | |
| NM_005896.3:c.395G>T , LRG_610t1:c.395G>T | NP_005887.2:p.Arg132Leu | |
| NM_005896.4:c.395G>T MANE Select | NP_005887.2:p.Arg132Leu |