Linked Data
ClinVar Variation Id:
40747
dbSNP Id:
rs397516793
PubMed:
PMID:12239713
PMID:12529707
PMID:16439621
PMID:16474404
PMID:17366577
PMID:17551924
PMID:17704260
PMID:18042262
PMID:19156172
PMID:20958325
PMID:21654472
PMID:22589294
PMID:22753777
PMID:24101678
PMID:25423878
PMID:27862862
ERepo:
CA279999/MONDO:0015280/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66436842T>C , CM000677.2:g.66436842T>C | GRCh38 |
| NC_000015.9:g.66729180T>C , CM000677.1:g.66729180T>C | GRCh37 |
| NC_000015.8:g.64516234T>C | NCBI36 |
| NG_008305.1:g.54970T>C , LRG_725:g.54970T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.322T>C | ENSP00000508681.1:p.Tyr108His | |
| ENST00000685172.1:c.388T>C | ENSP00000509604.1:p.Tyr130His | |
| ENST00000685763.1:c.291+1605T>C | ENSP00000509016.1:n.291+1605T>C | |
| ENST00000686347.1:c.388T>C | ENSP00000509027.1:p.Tyr130His | |
| ENST00000687191.1:n.824T>C | ||
| ENST00000689951.1:c.388T>C | ENSP00000509308.1:p.Tyr130His | |
| ENST00000691077.1:c.388T>C | ENSP00000509843.1:p.Tyr130His | |
| ENST00000691576.1:c.388T>C | ENSP00000510066.1:p.Tyr130His | |
| ENST00000691937.1:c.388T>C | ENSP00000508768.1:p.Tyr130His | |
| ENST00000692487.1:c.388T>C | ENSP00000509534.1:p.Tyr130His | |
| ENST00000692683.1:c.322T>C | ENSP00000508437.1:p.Tyr108His | |
| ENST00000693150.1:c.322T>C | ENSP00000510309.1:p.Tyr108His | |
| ENST00000307102.10:c.388T>C MANE Select | ENSP00000302486.5:p.Tyr130His | |
| ENST00000307102.9:c.388T>C | ENSP00000302486.4:p.Tyr130His | |
| ENST00000425818.2:n.899T>C | ||
| NM_002755.3:c.388T>C , LRG_725t1:c.388T>C | NP_002746.1:p.Tyr130His | |
| XM_011521783.1:c.322T>C | XP_011520085.1:p.Tyr108His | |
| XM_011521783.3:c.322T>C | XP_011520085.1:p.Tyr108His | |
| XM_017022411.2:c.388T>C | XP_016877900.1:p.Tyr130His | |
| XM_017022412.1:c.322T>C | XP_016877901.1:p.Tyr108His | |
| NM_002755.4:c.388T>C MANE Select | NP_002746.1:p.Tyr130His |