Linked Data
ClinVar Variation Id:
327970
dbSNP Id:
rs886054138
gnomAD v3:
19-10718090-G-T
gnomAD v4:
19-10718090-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10718090G>T , CM000681.2:g.10718090G>T | GRCh38 |
| NC_000019.9:g.10828766G>T , CM000681.1:g.10828766G>T | GRCh37 |
| NC_000019.8:g.10689766G>T | NCBI36 |
| NG_008792.1:g.5012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.36G>T | ||
| ENST00000682524.1:n.36G>T | ||
| ENST00000683738.1:n.36G>T | ||
| ENST00000355667.11:c.-153G>T | ENSP00000347890.6:n.-153G>T | |
| ENST00000389253.9:c.-153G>T MANE Select | ENSP00000373905.4:n.-153G>T | |
| ENST00000585892.5:c.-153G>T | ENSP00000468734.1:n.-153G>T | |
| NM_001005360.2:c.-153G>T | NP_001005360.1:n.-153G>T | |
| NM_001005361.2:c.-153G>T | NP_001005361.1:n.-153G>T | |
| NM_001005362.2:c.-153G>T | NP_001005362.1:n.-153G>T | |
| NM_001190716.1:c.-153G>T | NP_001177645.1:n.-153G>T | |
| NM_004945.3:c.-153G>T | NP_004936.2:n.-153G>T | |
| NM_001005361.3:c.-153G>T MANE Select | NP_001005361.1:n.-153G>T | |
| NM_001190716.2:c.-153G>T | NP_001177645.1:n.-153G>T | |
| NM_001005360.3:c.-153G>T | NP_001005360.1:n.-153G>T | |
| NM_001005362.3:c.-153G>T | NP_001005362.1:n.-153G>T | |
| NM_004945.4:c.-153G>T | NP_004936.2:n.-153G>T |