Linked Data
ClinVar Variation Id:
2914946
ClinVar RCV Id:
RCV003654867
dbSNP Id:
rs2140667480
MyVariant Identifiers:
chr15:g.66774124C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66481786C>T , CM000677.2:g.66481786C>T | GRCh38 |
| NC_000015.9:g.66774124C>T , CM000677.1:g.66774124C>T | GRCh37 |
| NC_000015.8:g.64561178C>T | NCBI36 |
| NG_008305.1:g.99914C>T , LRG_725:g.99914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.534C>T | ENSP00000508681.1:p.Ser178= | |
| ENST00000685172.1:c.600C>T | ENSP00000509604.1:p.Ser200= | |
| ENST00000685763.1:c.453C>T | ENSP00000509016.1:p.Ser151= | |
| ENST00000686347.1:c.569-5442C>T | ENSP00000509027.1:n.569-5442C>T | |
| ENST00000687191.1:n.958C>T | ||
| ENST00000689951.1:c.651C>T | ENSP00000509308.1:p.Ser217= | |
| ENST00000691077.1:c.600C>T | ENSP00000509843.1:p.Ser200= | |
| ENST00000691576.1:c.569-3208C>T | ENSP00000510066.1:n.569-3208C>T | |
| ENST00000691937.1:c.600C>T | ENSP00000508768.1:p.Ser200= | |
| ENST00000692487.1:c.600C>T | ENSP00000509534.1:p.Ser200= | |
| ENST00000692683.1:c.534C>T | ENSP00000508437.1:p.Ser178= | |
| ENST00000693150.1:c.456C>T | ENSP00000510309.1:p.Ser152= | |
| ENST00000307102.10:c.600C>T MANE Select | ENSP00000302486.5:p.Ser200= | |
| ENST00000307102.9:c.600C>T | ENSP00000302486.4:p.Ser200= | |
| ENST00000566326.1:c.72C>T | ENSP00000456438.1:p.Ser24= | |
| NM_002755.3:c.600C>T , LRG_725t1:c.600C>T | NP_002746.1:p.Ser200= | |
| XM_011521783.1:c.534C>T | XP_011520085.1:p.Ser178= | |
| XM_011521783.3:c.534C>T | XP_011520085.1:p.Ser178= | |
| XM_017022411.2:c.522C>T | XP_016877900.1:p.Ser174= | |
| XM_017022412.1:c.456C>T | XP_016877901.1:p.Ser152= | |
| XM_017022413.1:c.72C>T | XP_016877902.1:p.Ser24= | |
| NM_002755.4:c.600C>T MANE Select | NP_002746.1:p.Ser200= |