Linked Data
ClinVar Variation Id:
375983
ClinVar RCV Id:
RCV000430494
dbSNP Id:
rs1057519734
COSMIC:
COSM224488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485086C>T , CM000677.2:g.66485086C>T | GRCh38 |
| NC_000015.9:g.66777424C>T , CM000677.1:g.66777424C>T | GRCh37 |
| NC_000015.8:g.64564478C>T | NCBI36 |
| NG_008305.1:g.103214C>T , LRG_725:g.103214C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684779.1:c.628-2142C>T | ENSP00000508681.1:n.628-2142C>T | |
| ENST00000685172.1:c.790C>T | ENSP00000509604.1:p.Pro264Ser | |
| ENST00000685763.1:c.643C>T | ENSP00000509016.1:p.Pro215Ser | |
| ENST00000686347.1:c.569-2142C>T | ENSP00000509027.1:n.569-2142C>T | |
| ENST00000687191.1:n.1148C>T | ||
| ENST00000687481.1:n.205C>T | ||
| ENST00000689951.1:c.841C>T | ENSP00000509308.1:p.Pro281Ser | |
| ENST00000691077.1:c.*27C>T | ENSP00000509843.1:n.*27C>T | |
| ENST00000691576.1:c.661C>T | ENSP00000510066.1:p.Pro221Ser | |
| ENST00000691937.1:c.790C>T | ENSP00000508768.1:p.Pro264Ser | |
| ENST00000692487.1:c.*27C>T | ENSP00000509534.1:n.*27C>T | |
| ENST00000692683.1:c.724C>T | ENSP00000508437.1:p.Pro242Ser | |
| ENST00000693150.1:c.646C>T | ENSP00000510309.1:p.Pro216Ser | |
| ENST00000307102.10:c.790C>T MANE Select | ENSP00000302486.5:p.Pro264Ser | |
| ENST00000307102.9:c.790C>T | ENSP00000302486.4:p.Pro264Ser | |
| ENST00000566326.1:c.262C>T | ENSP00000456438.1:p.Pro88Ser | |
| NM_002755.3:c.790C>T , LRG_725t1:c.790C>T | NP_002746.1:p.Pro264Ser | |
| XM_011521783.1:c.724C>T | XP_011520085.1:p.Pro242Ser | |
| XM_011521783.3:c.724C>T | XP_011520085.1:p.Pro242Ser | |
| XM_017022411.2:c.712C>T | XP_016877900.1:p.Pro238Ser | |
| XM_017022412.1:c.646C>T | XP_016877901.1:p.Pro216Ser | |
| XM_017022413.1:c.262C>T | XP_016877902.1:p.Pro88Ser | |
| NM_002755.4:c.790C>T MANE Select | NP_002746.1:p.Pro264Ser |