Linked Data
ClinVar Variation Id:
1205498
dbSNP Id:
rs764379969
ExAC:
15:66777426 T / G
gnomAD v2:
15-66777426-T-G
gnomAD v3:
15-66485088-T-G
gnomAD v4:
15-66485088-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485088T>G , CM000677.2:g.66485088T>G | GRCh38 |
| NC_000015.9:g.66777426T>G , CM000677.1:g.66777426T>G | GRCh37 |
| NC_000015.8:g.64564480T>G | NCBI36 |
| NG_008305.1:g.103216T>G , LRG_725:g.103216T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2140T>G | ENSP00000508681.1:n.628-2140T>G | |
| ENST00000685172.1:c.792T>G | ENSP00000509604.1:p.Pro264= | |
| ENST00000685763.1:c.645T>G | ENSP00000509016.1:p.Pro215= | |
| ENST00000686347.1:c.569-2140T>G | ENSP00000509027.1:n.569-2140T>G | |
| ENST00000687191.1:n.1150T>G | ||
| ENST00000687481.1:n.207T>G | ||
| ENST00000689951.1:c.843T>G | ENSP00000509308.1:p.Pro281= | |
| ENST00000691077.1:c.*29T>G | ENSP00000509843.1:n.*29T>G | |
| ENST00000691576.1:c.663T>G | ENSP00000510066.1:p.Pro221= | |
| ENST00000691937.1:c.792T>G | ENSP00000508768.1:p.Pro264= | |
| ENST00000692487.1:c.*29T>G | ENSP00000509534.1:n.*29T>G | |
| ENST00000692683.1:c.726T>G | ENSP00000508437.1:p.Pro242= | |
| ENST00000693150.1:c.648T>G | ENSP00000510309.1:p.Pro216= | |
| ENST00000307102.10:c.792T>G MANE Select | ENSP00000302486.5:p.Pro264= | |
| ENST00000307102.9:c.792T>G | ENSP00000302486.4:p.Pro264= | |
| ENST00000566326.1:c.264T>G | ENSP00000456438.1:p.Pro88= | |
| NM_002755.3:c.792T>G , LRG_725t1:c.792T>G | NP_002746.1:p.Pro264= | |
| XM_011521783.1:c.726T>G | XP_011520085.1:p.Pro242= | |
| XM_011521783.3:c.726T>G | XP_011520085.1:p.Pro242= | |
| XM_017022411.2:c.714T>G | XP_016877900.1:p.Pro238= | |
| XM_017022412.1:c.648T>G | XP_016877901.1:p.Pro216= | |
| XM_017022413.1:c.264T>G | XP_016877902.1:p.Pro88= | |
| NM_002755.4:c.792T>G MANE Select | NP_002746.1:p.Pro264= |