Linked Data
ClinVar Variation Id:
40756
dbSNP Id:
rs144080051
ExAC:
15:66777482 C / T
gnomAD v2:
15-66777482-C-T
gnomAD v3:
15-66485144-C-T
gnomAD v4:
15-66485144-C-T
ERepo:
CA134622/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485144C>T , CM000677.2:g.66485144C>T | GRCh38 |
| NC_000015.9:g.66777482C>T , CM000677.1:g.66777482C>T | GRCh37 |
| NC_000015.8:g.64564536C>T | NCBI36 |
| NG_008305.1:g.103272C>T , LRG_725:g.103272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2084C>T | ENSP00000508681.1:n.628-2084C>T | |
| ENST00000685172.1:c.848C>T | ENSP00000509604.1:p.Ala283Val | |
| ENST00000685763.1:c.701C>T | ENSP00000509016.1:p.Ala234Val | |
| ENST00000686347.1:c.569-2084C>T | ENSP00000509027.1:n.569-2084C>T | |
| ENST00000687191.1:n.1206C>T | ||
| ENST00000687481.1:n.263C>T | ||
| ENST00000689951.1:c.899C>T | ENSP00000509308.1:p.Ala300Val | |
| ENST00000691077.1:c.*85C>T | ENSP00000509843.1:n.*85C>T | |
| ENST00000691576.1:c.719C>T | ENSP00000510066.1:p.Ala240Val | |
| ENST00000691937.1:c.848C>T | ENSP00000508768.1:p.Ala283Val | |
| ENST00000692487.1:c.*85C>T | ENSP00000509534.1:n.*85C>T | |
| ENST00000692683.1:c.782C>T | ENSP00000508437.1:p.Ala261Val | |
| ENST00000693150.1:c.704C>T | ENSP00000510309.1:p.Ala235Val | |
| ENST00000307102.10:c.848C>T MANE Select | ENSP00000302486.5:p.Ala283Val | |
| ENST00000307102.9:c.848C>T | ENSP00000302486.4:p.Ala283Val | |
| ENST00000566326.1:c.320C>T | ENSP00000456438.1:p.Ala107Val | |
| NM_002755.3:c.848C>T , LRG_725t1:c.848C>T | NP_002746.1:p.Ala283Val | |
| XM_011521783.1:c.782C>T | XP_011520085.1:p.Ala261Val | |
| XM_011521783.3:c.782C>T | XP_011520085.1:p.Ala261Val | |
| XM_017022411.2:c.770C>T | XP_016877900.1:p.Ala257Val | |
| XM_017022412.1:c.704C>T | XP_016877901.1:p.Ala235Val | |
| XM_017022413.1:c.320C>T | XP_016877902.1:p.Ala107Val | |
| NM_002755.4:c.848C>T MANE Select | NP_002746.1:p.Ala283Val |