Linked Data
ClinVar Variation Id:
282955
ClinVar RCV Id:
RCV000402219
dbSNP Id:
rs150102345
ExAC:
4:151186865 C / A
gnomAD v2:
4-151186865-C-A
gnomAD v3:
4-150265713-C-A
gnomAD v4:
4-150265713-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.150265713C>A , CM000666.2:g.150265713C>A | GRCh38 |
| NC_000004.11:g.151186865C>A , CM000666.1:g.151186865C>A | GRCh37 |
| NC_000004.10:g.151406315C>A | NCBI36 |
| NG_032855.1:g.754785G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510157.2:n.1184G>T | ||
| ENST00000515096.6:n.5238G>T | ||
| ENST00000651695.2:c.*9G>T | ENSP00000498254.2:n.*9G>T | |
| ENST00000697127.1:c.*9G>T | ENSP00000513124.1:n.*9G>T | |
| ENST00000697128.1:c.2917G>T | ||
| ENST00000357115.9:c.*9G>T | ENSP00000349629.3:n.*9G>T | |
| ENST00000648626.1:n.3033G>T | ||
| ENST00000648823.1:c.2298G>T | ||
| ENST00000648878.1:c.2104G>T | ENSP00000497002.1:n.2104G>T | |
| ENST00000651035.1:c.*2929G>T | ENSP00000498673.1:n.*2929G>T | |
| ENST00000651695.1:c.6297G>T | ENSP00000498254.1:n.6297G>T | |
| ENST00000651943.2:c.*9G>T MANE Select | ENSP00000498582.2:n.*9G>T | |
| ENST00000357115.7:c.*9G>T | ENSP00000349629.3:n.*9G>T | |
| ENST00000503716.5:n.2658G>T | ||
| ENST00000508606.1:c.486G>T | ||
| ENST00000509835.5:c.4526G>T | ||
| ENST00000510157.1:n.949G>T | ||
| ENST00000510413.5:c.*9G>T | ENSP00000421552.1:n.*9G>T | |
| ENST00000515096.5:n.1860G>T | ||
| NM_001199282.2:c.*9G>T | NP_001186211.2:n.*9G>T | |
| NM_006726.4:c.*9G>T | NP_006717.2:n.*9G>T | |
| XM_005263372.2:c.*9G>T | XP_005263429.1:n.*9G>T | |
| XM_005263373.1:c.*9G>T | XP_005263430.1:n.*9G>T | |
| XM_005263374.2:c.*9G>T | XP_005263431.1:n.*9G>T | |
| XM_005263375.2:c.*9G>T | XP_005263432.1:n.*9G>T | |
| XM_011532434.1:c.*9G>T | XP_011530736.1:n.*9G>T | |
| NM_001364905.1:c.*9G>T MANE Select | NP_001351834.1:n.*9G>T | |
| XM_005263372.3:c.*9G>T | XP_005263429.1:n.*9G>T | |
| XM_005263373.3:c.*9G>T | XP_005263430.1:n.*9G>T | |
| XM_005263374.3:c.*9G>T | XP_005263431.1:n.*9G>T | |
| XM_011532434.2:c.*9G>T | XP_011530736.1:n.*9G>T | |
| XM_017008872.2:c.*9G>T | XP_016864361.1:n.*9G>T | |
| XM_017008873.2:c.*9G>T | XP_016864362.1:n.*9G>T | |
| XM_017008874.1:c.*9G>T | XP_016864363.1:n.*9G>T | |
| NM_001367550.1:c.*9G>T | NP_001354479.1:n.*9G>T |