Linked Data
ClinVar Variation Id:
40554
ClinVar RCV Id:
RCV000033540
RCV000055886
RCV000212896
RCV000626828
RCV000494687
RCV000824748
RCV001813260
dbSNP Id:
rs397507542
COSMIC:
COSM6006459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489069G>T , CM000674.2:g.112489069G>T | GRCh38 |
| NC_000012.11:g.112926873G>T , CM000674.1:g.112926873G>T | GRCh37 |
| NC_000012.10:g.111411256G>T | NCBI36 |
| NG_007459.1:g.75338G>T , LRG_614:g.75338G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1493G>T | ENSP00000491593.2:p.Arg498Leu | |
| ENST00000685487.1:c.1493G>T | ENSP00000508503.1:p.Arg498Leu | |
| ENST00000687624.1:n.158G>T | ||
| ENST00000687906.1:c.1379G>T | ENSP00000509536.1:p.Arg460Leu | |
| ENST00000688597.1:c.1224+6864G>T | ENSP00000510628.1:n.1224+6864G>T | |
| ENST00000688701.1:n.737G>T | ||
| ENST00000690210.1:c.1493G>T | ENSP00000509272.1:p.Arg498Leu | |
| ENST00000690472.1:n.702G>T | ||
| ENST00000692624.1:c.*39G>T | ENSP00000508953.1:n.*39G>T | |
| ENST00000351677.7:c.1493G>T MANE Select | ENSP00000340944.3:p.Arg498Leu | |
| ENST00000351677.6:c.1493G>T | ENSP00000340944.2:p.Arg498Leu | |
| ENST00000635625.1:c.1505G>T | ENSP00000489597.1:p.Arg502Leu | |
| ENST00000635652.1:c.506G>T | ENSP00000489541.1:p.Arg169Leu | |
| NM_002834.3:c.1493G>T , LRG_614t1:c.1493G>T | NP_002825.3:p.Arg498Leu | |
| XM_006719526.1:c.1505G>T | XP_006719589.1:p.Arg502Leu | |
| XM_006719527.1:c.1391G>T | XP_006719590.1:p.Arg464Leu | |
| XM_011538613.1:c.1502G>T | XP_011536915.1:p.Arg501Leu | |
| NM_001330437.1:c.1505G>T | NP_001317366.1:p.Arg502Leu | |
| NM_002834.4:c.1493G>T | NP_002825.3:p.Arg498Leu | |
| XM_011538613.2:c.1502G>T | XP_011536915.1:p.Arg501Leu | |
| XM_017019722.1:c.1490G>T | XP_016875211.1:p.Arg497Leu | |
| NM_001330437.2:c.1505G>T | NP_001317366.1:p.Arg502Leu | |
| NM_001374625.1:c.1490G>T | NP_001361554.1:p.Arg497Leu | |
| NM_002834.5:c.1493G>T MANE Select | NP_002825.3:p.Arg498Leu |