Linked Data
ClinVar Variation Id:
13342
ClinVar RCV Id:
RCV000033530
RCV000037611
RCV000055882
RCV000529342
RCV001002017
RCV001089941
RCV004532345
dbSNP Id:
rs121918468
COSMIC:
COSM1287456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112488444G>A , CM000674.2:g.112488444G>A | GRCh38 |
| NC_000012.11:g.112926248G>A , CM000674.1:g.112926248G>A | GRCh37 |
| NC_000012.10:g.111410631G>A | NCBI36 |
| NG_007459.1:g.74713G>A , LRG_614:g.74713G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1381G>A | ENSP00000491593.2:p.Ala461Thr | |
| ENST00000685487.1:c.1381G>A | ENSP00000508503.1:p.Ala461Thr | |
| ENST00000687624.1:n.46G>A | ||
| ENST00000687906.1:c.1267G>A | ENSP00000509536.1:p.Ala423Thr | |
| ENST00000688597.1:c.1224+6239G>A | ENSP00000510628.1:n.1224+6239G>A | |
| ENST00000688701.1:n.625G>A | ||
| ENST00000690210.1:c.1381G>A | ENSP00000509272.1:p.Ala461Thr | |
| ENST00000690472.1:n.590G>A | ||
| ENST00000692624.1:c.1380-580G>A | ENSP00000508953.1:n.1380-580G>A | |
| ENST00000351677.7:c.1381G>A MANE Select | ENSP00000340944.3:p.Ala461Thr | |
| ENST00000351677.6:c.1381G>A | ENSP00000340944.2:p.Ala461Thr | |
| ENST00000635625.1:c.1393G>A | ENSP00000489597.1:p.Ala465Thr | |
| ENST00000635652.1:c.394G>A | ENSP00000489541.1:p.Ala132Thr | |
| NM_002834.3:c.1381G>A , LRG_614t1:c.1381G>A | NP_002825.3:p.Ala461Thr | |
| XM_006719526.1:c.1393G>A | XP_006719589.1:p.Ala465Thr | |
| XM_006719527.1:c.1279G>A | XP_006719590.1:p.Ala427Thr | |
| XM_011538613.1:c.1390G>A | XP_011536915.1:p.Ala464Thr | |
| NM_001330437.1:c.1393G>A | NP_001317366.1:p.Ala465Thr | |
| NM_002834.4:c.1381G>A | NP_002825.3:p.Ala461Thr | |
| XM_011538613.2:c.1390G>A | XP_011536915.1:p.Ala464Thr | |
| XM_017019722.1:c.1378G>A | XP_016875211.1:p.Ala460Thr | |
| NM_001330437.2:c.1393G>A | NP_001317366.1:p.Ala465Thr | |
| NM_001374625.1:c.1378G>A | NP_001361554.1:p.Ala460Thr | |
| NM_002834.5:c.1381G>A MANE Select | NP_002825.3:p.Ala461Thr |