Linked Data
ClinVar Variation Id:
375981
ClinVar RCV Id:
RCV000426713
RCV000433235
RCV000433927
RCV000443916
RCV000444865
RCV000482718
RCV000824936
RCV000989347
RCV001250385
dbSNP Id:
rs1057519732
COSMIC:
COSM235614
CIViC:
CA16602456
ERepo:
CA16602456/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66436824C>T , CM000677.2:g.66436824C>T | GRCh38 |
| NC_000015.9:g.66729162C>T , CM000677.1:g.66729162C>T | GRCh37 |
| NC_000015.8:g.64516216C>T | NCBI36 |
| NG_008305.1:g.54952C>T , LRG_725:g.54952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.304C>T | ENSP00000508681.1:p.Pro102Ser | |
| ENST00000685172.1:c.370C>T | ENSP00000509604.1:p.Pro124Ser | |
| ENST00000685763.1:c.291+1587C>T | ENSP00000509016.1:n.291+1587C>T | |
| ENST00000686347.1:c.370C>T | ENSP00000509027.1:p.Pro124Ser | |
| ENST00000687191.1:n.806C>T | ||
| ENST00000689951.1:c.370C>T | ENSP00000509308.1:p.Pro124Ser | |
| ENST00000691077.1:c.370C>T | ENSP00000509843.1:p.Pro124Ser | |
| ENST00000691576.1:c.370C>T | ENSP00000510066.1:p.Pro124Ser | |
| ENST00000691937.1:c.370C>T | ENSP00000508768.1:p.Pro124Ser | |
| ENST00000692487.1:c.370C>T | ENSP00000509534.1:p.Pro124Ser | |
| ENST00000692683.1:c.304C>T | ENSP00000508437.1:p.Pro102Ser | |
| ENST00000693150.1:c.304C>T | ENSP00000510309.1:p.Pro102Ser | |
| ENST00000307102.10:c.370C>T MANE Select | ENSP00000302486.5:p.Pro124Ser | |
| ENST00000307102.9:c.370C>T | ENSP00000302486.4:p.Pro124Ser | |
| ENST00000425818.2:n.881C>T | ||
| NM_002755.3:c.370C>T , LRG_725t1:c.370C>T | NP_002746.1:p.Pro124Ser | |
| XM_011521783.1:c.304C>T | XP_011520085.1:p.Pro102Ser | |
| XM_011521783.3:c.304C>T | XP_011520085.1:p.Pro102Ser | |
| XM_017022411.2:c.370C>T | XP_016877900.1:p.Pro124Ser | |
| XM_017022412.1:c.304C>T | XP_016877901.1:p.Pro102Ser | |
| NM_002755.4:c.370C>T MANE Select | NP_002746.1:p.Pro124Ser |