CIViC:
COSMIC:
Revel Score:
ENST00000345146 (MANE Select)
0.835
ENST00000446179
0.835
ENST00000415913
0.835
ENST00000415282
0.835
ClinVar RCV:
ClinVar Variation:
dbSNP:
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 |