Linked Data
ClinVar Variation Id:
357676
ClinVar RCV Id:
RCV000293083
dbSNP Id:
rs886061661
COSMIC:
COSM1251651
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6266802G>A , CM000668.2:g.6266802G>A | GRCh38 |
| NC_000006.11:g.6267035G>A , CM000668.1:g.6267035G>A | GRCh37 |
| NC_000006.10:g.6212034G>A | NCBI36 |
| NG_008107.1:g.58890C>T , LRG_549:g.58890C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.327C>T MANE Select | ENSP00000264870.3:p.Tyr109= | |
| ENST00000264870.7:c.327C>T | ENSP00000264870.3:p.Tyr109= | |
| ENST00000414279.5:c.327C>T | ENSP00000413334.1:p.Tyr109= | |
| ENST00000431222.6:c.489C>T | ENSP00000416295.2:p.Tyr163= | |
| ENST00000479211.1:n.312C>T | ||
| NM_000129.3:c.327C>T , LRG_549t1:c.327C>T | NP_000120.2:p.Tyr109= | |
| XM_006715010.2:c.327C>T | XP_006715073.1:p.Tyr109= | |
| XM_011514342.1:c.489C>T | XP_011512644.1:p.Tyr163= | |
| NM_000129.4:c.327C>T MANE Select | NP_000120.2:p.Tyr109= |