Linked Data
dbSNP Id:
rs772013314
ExAC:
17:4622547 A / T
gnomAD v2:
17-4622547-A-T
gnomAD v4:
17-4719252-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4719252A>T , CM000679.2:g.4719252A>T | GRCh38 |
| NC_000017.10:g.4622547A>T , CM000679.1:g.4622547A>T | GRCh37 |
| NC_000017.9:g.4569296A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269260.7:c.780-31A>T MANE Select | ENSP00000269260.2:n.780-31A>T | |
| ENST00000269260.6:c.780-31A>T | ENSP00000269260.2:n.780-31A>T | |
| ENST00000346341.6:c.735-31A>T | ENSP00000341895.2:n.735-31A>T | |
| ENST00000381488.10:c.735-31A>T | ENSP00000370898.6:n.735-31A>T | |
| ENST00000412477.7:c.843-31A>T | ENSP00000403701.3:n.843-31A>T | |
| ENST00000571206.1:c.204-31A>T | ENSP00000460607.1:n.204-31A>T | |
| ENST00000571428.5:c.204-31A>T | ENSP00000465877.1:n.204-31A>T | |
| ENST00000572457.5:c.204-31A>T | ENSP00000465296.1:n.204-31A>T | |
| ENST00000574502.5:c.*258-31A>T | ENSP00000458371.1:n.*258-31A>T | |
| ENST00000574954.5:c.204-31A>T | ENSP00000466344.1:n.204-31A>T | |
| ENST00000575877.5:c.780-31A>T | ENSP00000466857.1:n.780-31A>T | |
| ENST00000576235.1:c.662-31A>T | ENSP00000460879.1:n.662-31A>T | |
| NM_001257328.1:c.843-31A>T | NP_001244257.1:n.843-31A>T | |
| NM_001257329.1:c.780-31A>T | NP_001244258.1:n.780-31A>T | |
| NM_001257330.1:c.780-31A>T | NP_001244259.1:n.780-31A>T | |
| NM_001257331.1:c.735-31A>T | NP_001244260.1:n.735-31A>T | |
| NM_004313.3:c.780-31A>T | NP_004304.1:n.780-31A>T | |
| NM_199004.1:c.735-31A>T | NP_945355.1:n.735-31A>T | |
| NR_047516.1:n.977-31A>T | ||
| XM_006721520.1:c.204-31A>T | XP_006721583.1:n.204-31A>T | |
| XM_006721521.1:c.204-31A>T | XP_006721584.1:n.204-31A>T | |
| XM_011523858.1:c.873-31A>T | XP_011522160.1:n.873-31A>T | |
| XM_011523859.1:c.828-31A>T | XP_011522161.1:n.828-31A>T | |
| NM_001330064.1:c.204-31A>T | NP_001316993.1:n.204-31A>T | |
| XM_011523858.2:c.873-31A>T | XP_011522160.1:n.873-31A>T | |
| XM_017024645.1:c.204-31A>T | XP_016880134.1:n.204-31A>T | |
| XM_024450751.1:c.780-31A>T | XP_024306519.1:n.780-31A>T | |
| XM_024450752.1:c.204-31A>T | XP_024306520.1:n.204-31A>T | |
| XM_024450753.1:c.204-31A>T | XP_024306521.1:n.204-31A>T | |
| XR_002958006.1:n.787-31A>T | ||
| XR_002958007.1:n.787-31A>T | ||
| NM_004313.4:c.780-31A>T MANE Select | NP_004304.1:n.780-31A>T | |
| NM_001257328.2:c.843-31A>T | NP_001244257.1:n.843-31A>T | |
| NM_001257329.2:c.780-31A>T | NP_001244258.1:n.780-31A>T | |
| NM_001257330.2:c.780-31A>T | NP_001244259.1:n.780-31A>T | |
| NM_001257331.2:c.735-31A>T | NP_001244260.1:n.735-31A>T | |
| NM_001330064.2:c.204-31A>T | NP_001316993.1:n.204-31A>T | |
| NM_199004.2:c.735-31A>T | NP_945355.1:n.735-31A>T | |
| NR_047516.2:n.839-31A>T |