Linked Data
ClinVar Variation Id:
2852668
ClinVar RCV Id:
RCV003655993
dbSNP Id:
rs1419207514
gnomAD v3:
15-66481855-C-T
gnomAD v4:
15-66481855-C-T
COSMIC:
COSM3711844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66481855C>T , CM000677.2:g.66481855C>T | GRCh38 |
| NC_000015.9:g.66774193C>T , CM000677.1:g.66774193C>T | GRCh37 |
| NC_000015.8:g.64561247C>T | NCBI36 |
| NG_008305.1:g.99983C>T , LRG_725:g.99983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.603C>T | ENSP00000508681.1:p.Phe201= | |
| ENST00000685172.1:c.669C>T | ENSP00000509604.1:p.Phe223= | |
| ENST00000685763.1:c.522C>T | ENSP00000509016.1:p.Phe174= | |
| ENST00000686347.1:c.569-5373C>T | ENSP00000509027.1:n.569-5373C>T | |
| ENST00000687191.1:n.1027C>T | ||
| ENST00000689951.1:c.720C>T | ENSP00000509308.1:p.Phe240= | |
| ENST00000691077.1:c.669C>T | ENSP00000509843.1:p.Phe223= | |
| ENST00000691576.1:c.569-3139C>T | ENSP00000510066.1:n.569-3139C>T | |
| ENST00000691937.1:c.669C>T | ENSP00000508768.1:p.Phe223= | |
| ENST00000692487.1:c.669C>T | ENSP00000509534.1:p.Phe223= | |
| ENST00000692683.1:c.603C>T | ENSP00000508437.1:p.Phe201= | |
| ENST00000693150.1:c.525C>T | ENSP00000510309.1:p.Phe175= | |
| ENST00000307102.10:c.669C>T MANE Select | ENSP00000302486.5:p.Phe223= | |
| ENST00000307102.9:c.669C>T | ENSP00000302486.4:p.Phe223= | |
| ENST00000566326.1:c.141C>T | ENSP00000456438.1:p.Phe47= | |
| NM_002755.3:c.669C>T , LRG_725t1:c.669C>T | NP_002746.1:p.Phe223= | |
| XM_011521783.1:c.603C>T | XP_011520085.1:p.Phe201= | |
| XM_011521783.3:c.603C>T | XP_011520085.1:p.Phe201= | |
| XM_017022411.2:c.591C>T | XP_016877900.1:p.Phe197= | |
| XM_017022412.1:c.525C>T | XP_016877901.1:p.Phe175= | |
| XM_017022413.1:c.141C>T | XP_016877902.1:p.Phe47= | |
| NM_002755.4:c.669C>T MANE Select | NP_002746.1:p.Phe223= |