Linked Data
ClinVar Variation Id:
40760
dbSNP Id:
rs41306345
ExAC:
15:66782048 C / T
gnomAD v2:
15-66782048-C-T
gnomAD v3:
15-66489710-C-T
gnomAD v4:
15-66489710-C-T
ERepo:
CA134590/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66489710C>T , CM000677.2:g.66489710C>T | GRCh38 |
| NC_000015.9:g.66782048C>T , CM000677.1:g.66782048C>T | GRCh37 |
| NC_000015.8:g.64569102C>T | NCBI36 |
| NG_008305.1:g.107838C>T , LRG_725:g.107838C>T | |
| NG_051234.1:g.13106G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*71-8C>T | ENSP00000508681.1:n.*71-8C>T | |
| ENST00000685172.1:c.1022+434C>T | ENSP00000509604.1:n.1022+434C>T | |
| ENST00000685763.1:c.876-8C>T | ENSP00000509016.1:n.876-8C>T | |
| ENST00000686347.1:c.696-8C>T | ENSP00000509027.1:n.696-8C>T | |
| ENST00000687191.1:n.3303-8C>T | ||
| ENST00000687481.1:n.438-8C>T | ||
| ENST00000688689.1:n.778-8C>T | ||
| ENST00000689951.1:c.1074-8C>T | ENSP00000509308.1:n.1074-8C>T | |
| ENST00000691077.1:c.*2182-8C>T | ENSP00000509843.1:n.*2182-8C>T | |
| ENST00000691576.1:c.894-8C>T | ENSP00000510066.1:n.894-8C>T | |
| ENST00000691937.1:c.*4-8C>T | ENSP00000508768.1:n.*4-8C>T | |
| ENST00000692487.1:c.*2615C>T | ENSP00000509534.1:n.*2615C>T | |
| ENST00000692683.1:c.957-8C>T | ENSP00000508437.1:n.957-8C>T | |
| ENST00000693150.1:c.879-8C>T | ENSP00000510309.1:n.879-8C>T | |
| ENST00000307102.10:c.1023-8C>T MANE Select | ENSP00000302486.5:n.1023-8C>T | |
| ENST00000307102.9:c.1023-8C>T | ENSP00000302486.4:n.1023-8C>T | |
| ENST00000566326.1:c.495-8C>T | ENSP00000456438.1:n.495-8C>T | |
| NM_002755.3:c.1023-8C>T , LRG_725t1:c.1023-8C>T | NP_002746.1:n.1023-8C>T | |
| XM_011521783.1:c.957-8C>T | XP_011520085.1:n.957-8C>T | |
| XM_011521783.3:c.957-8C>T | XP_011520085.1:n.957-8C>T | |
| XM_017022411.2:c.945-8C>T | XP_016877900.1:n.945-8C>T | |
| XM_017022412.1:c.879-8C>T | XP_016877901.1:n.879-8C>T | |
| XM_017022413.1:c.495-8C>T | XP_016877902.1:n.495-8C>T | |
| NM_002755.4:c.1023-8C>T MANE Select | NP_002746.1:n.1023-8C>T |