Linked Data
ClinVar Variation Id:
1190183
ClinVar RCV Id:
RCV001550791
dbSNP Id:
rs17349412
gnomAD v2:
15-48518555-C-T
gnomAD v3:
15-48226358-C-T
gnomAD v4:
15-48226358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48226358C>T , CM000677.2:g.48226358C>T | GRCh38 |
| NC_000015.9:g.48518555C>T , CM000677.1:g.48518555C>T | GRCh37 |
| NC_000015.8:g.46305847C>T | NCBI36 |
| NG_021301.1:g.25058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686073.1:c.724+411C>T | ENSP00000508901.1:n.724+411C>T | |
| ENST00000380993.8:c.629-118C>T MANE Select | ENSP00000370381.3:n.629-118C>T | |
| ENST00000646012.1:c.767-118C>T | ENSP00000495813.1:n.767-118C>T | |
| ENST00000647232.1:c.629-721C>T | ENSP00000493875.1:n.629-721C>T | |
| ENST00000647546.1:c.629-118C>T | ENSP00000495332.1:n.629-118C>T | |
| ENST00000330289.10:c.629-118C>T | ENSP00000331550.6:n.629-118C>T | |
| ENST00000380993.7:c.629-118C>T | ENSP00000370381.3:n.629-118C>T | |
| ENST00000396577.7:c.629-721C>T | ENSP00000379822.3:n.629-721C>T | |
| ENST00000558252.5:n.4031C>T | ||
| ENST00000558405.5:c.629-118C>T | ENSP00000453409.1:n.629-118C>T | |
| ENST00000559641.5:c.68-118C>T | ENSP00000453230.1:n.68-118C>T | |
| ENST00000559723.2:n.97+411C>T | ||
| ENST00000560692.5:n.2033C>T | ||
| ENST00000561127.5:c.68-118C>T | ENSP00000453602.2:n.68-118C>T | |
| NM_000338.2:c.629-118C>T | NP_000329.2:n.629-118C>T | |
| NM_001184832.1:c.629-721C>T | NP_001171761.1:n.629-721C>T | |
| XM_005254605.1:c.629-118C>T | XP_005254662.1:n.629-118C>T | |
| XM_005254606.1:c.724+411C>T | XP_005254663.1:n.724+411C>T | |
| XM_006720656.1:c.629-118C>T | XP_006720719.1:n.629-118C>T | |
| XR_931896.1:n.845-118C>T | ||
| XM_005254606.2:c.724+411C>T | XP_005254663.1:n.724+411C>T | |
| XR_001751524.2:n.364-825G>A | ||
| XR_001751525.1:n.364-825G>A | ||
| XR_002957762.1:n.364-825G>A | ||
| XR_932204.3:n.358-825G>A | ||
| NM_000338.3:c.629-118C>T MANE Select | NP_000329.2:n.629-118C>T | |
| NM_001184832.2:c.629-721C>T | NP_001171761.1:n.629-721C>T | |
| NM_001384136.1:c.724+411C>T | NP_001371065.1:n.724+411C>T |