Linked Data
ClinVar Variation Id:
40744
ClinVar RCV Id:
RCV000037595
RCV000424633
RCV000436322
RCV000435315
RCV000417448
RCV000425638
RCV000680623
RCV001542689
RCV001813306
RCV002513329
dbSNP Id:
rs397516792
COSMIC:
COSM1315861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66436825C>T , CM000677.2:g.66436825C>T | GRCh38 |
| NC_000015.9:g.66729163C>T , CM000677.1:g.66729163C>T | GRCh37 |
| NC_000015.8:g.64516217C>T | NCBI36 |
| NG_008305.1:g.54953C>T , LRG_725:g.54953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.305C>T | ENSP00000508681.1:p.Pro102Leu | |
| ENST00000685172.1:c.371C>T | ENSP00000509604.1:p.Pro124Leu | |
| ENST00000685763.1:c.291+1588C>T | ENSP00000509016.1:n.291+1588C>T | |
| ENST00000686347.1:c.371C>T | ENSP00000509027.1:p.Pro124Leu | |
| ENST00000687191.1:n.807C>T | ||
| ENST00000689951.1:c.371C>T | ENSP00000509308.1:p.Pro124Leu | |
| ENST00000691077.1:c.371C>T | ENSP00000509843.1:p.Pro124Leu | |
| ENST00000691576.1:c.371C>T | ENSP00000510066.1:p.Pro124Leu | |
| ENST00000691937.1:c.371C>T | ENSP00000508768.1:p.Pro124Leu | |
| ENST00000692487.1:c.371C>T | ENSP00000509534.1:p.Pro124Leu | |
| ENST00000692683.1:c.305C>T | ENSP00000508437.1:p.Pro102Leu | |
| ENST00000693150.1:c.305C>T | ENSP00000510309.1:p.Pro102Leu | |
| ENST00000307102.10:c.371C>T MANE Select | ENSP00000302486.5:p.Pro124Leu | |
| ENST00000307102.9:c.371C>T | ENSP00000302486.4:p.Pro124Leu | |
| ENST00000425818.2:n.882C>T | ||
| NM_002755.3:c.371C>T , LRG_725t1:c.371C>T | NP_002746.1:p.Pro124Leu | |
| XM_011521783.1:c.305C>T | XP_011520085.1:p.Pro102Leu | |
| XM_011521783.3:c.305C>T | XP_011520085.1:p.Pro102Leu | |
| XM_017022411.2:c.371C>T | XP_016877900.1:p.Pro124Leu | |
| XM_017022412.1:c.305C>T | XP_016877901.1:p.Pro102Leu | |
| NM_002755.4:c.371C>T MANE Select | NP_002746.1:p.Pro124Leu |