Linked Data
ClinVar Variation Id:
13351
ClinVar RCV Id:
RCV000043672
RCV000208757
RCV000207506
RCV000541525
RCV000623321
RCV000763362
RCV001197351
RCV003450638
RCV004532347
dbSNP Id:
rs121908595
gnomAD v2:
15-66729181-A-G
gnomAD v4:
15-66436843-A-G
COSMIC:
COSM4808464
PubMed:
PMID:12239713
PMID:12529707
PMID:16439621
PMID:16474404
PMID:17366577
PMID:17551924
PMID:17567882
PMID:17704260
PMID:17981815
PMID:18042262
PMID:18632602
PMID:19156172
PMID:20301365
PMID:20958325
PMID:21654472
PMID:22589294
PMID:22753777
PMID:22848035
PMID:23093928
PMID:23891399
PMID:24101678
PMID:24236184
PMID:24637312
PMID:25423878
PMID:26795593
PMID:27862862
ERepo:
CA280036/MONDO:0015280/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66436843A>G , CM000677.2:g.66436843A>G | GRCh38 |
| NC_000015.9:g.66729181A>G , CM000677.1:g.66729181A>G | GRCh37 |
| NC_000015.8:g.64516235A>G | NCBI36 |
| NG_008305.1:g.54971A>G , LRG_725:g.54971A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.323A>G | ENSP00000508681.1:p.Tyr108Cys | |
| ENST00000685172.1:c.389A>G | ENSP00000509604.1:p.Tyr130Cys | |
| ENST00000685763.1:c.291+1606A>G | ENSP00000509016.1:n.291+1606A>G | |
| ENST00000686347.1:c.389A>G | ENSP00000509027.1:p.Tyr130Cys | |
| ENST00000687191.1:n.825A>G | ||
| ENST00000689951.1:c.389A>G | ENSP00000509308.1:p.Tyr130Cys | |
| ENST00000691077.1:c.389A>G | ENSP00000509843.1:p.Tyr130Cys | |
| ENST00000691576.1:c.389A>G | ENSP00000510066.1:p.Tyr130Cys | |
| ENST00000691937.1:c.389A>G | ENSP00000508768.1:p.Tyr130Cys | |
| ENST00000692487.1:c.389A>G | ENSP00000509534.1:p.Tyr130Cys | |
| ENST00000692683.1:c.323A>G | ENSP00000508437.1:p.Tyr108Cys | |
| ENST00000693150.1:c.323A>G | ENSP00000510309.1:p.Tyr108Cys | |
| ENST00000307102.10:c.389A>G MANE Select | ENSP00000302486.5:p.Tyr130Cys | |
| ENST00000307102.9:c.389A>G | ENSP00000302486.4:p.Tyr130Cys | |
| ENST00000425818.2:n.900A>G | ||
| NM_002755.3:c.389A>G , LRG_725t1:c.389A>G | NP_002746.1:p.Tyr130Cys | |
| XM_011521783.1:c.323A>G | XP_011520085.1:p.Tyr108Cys | |
| XM_011521783.3:c.323A>G | XP_011520085.1:p.Tyr108Cys | |
| XM_017022411.2:c.389A>G | XP_016877900.1:p.Tyr130Cys | |
| XM_017022412.1:c.323A>G | XP_016877901.1:p.Tyr108Cys | |
| NM_002755.4:c.389A>G MANE Select | NP_002746.1:p.Tyr130Cys |