gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39116977 (NFE)
Genomes Max Group AF
0.39116977 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206776020A>T , CM000663.2:g.206776020A>T | GRCh38 |
| NC_000001.10:g.206949365A>T , CM000663.1:g.206949365A>T | GRCh37 |
| NC_000001.9:g.205015988A>T | NCBI36 |
| NG_012088.1:g.1475T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000659997.3:c.-149+4942A>T MANE Select | ENSP00000499459.2:n.-149+4942A>T | |
| ENST00000656872.2:c.-149+5190A>T | ENSP00000499487.2:n.-149+5190A>T | |
| ENST00000659997.2:c.-149+4942A>T | ENSP00000499459.2:n.-149+4942A>T | |
| ENST00000662320.1:n.67+5190A>T | ||
| NM_153758.3:c.-35+4942A>T | NP_715639.1:n.-35+4942A>T | |
| NM_001393490.1:c.-149+5190A>T | NP_001380419.1:n.-149+5190A>T | |
| NM_153758.5:c.-149+4942A>T MANE Select | NP_715639.2:n.-149+4942A>T |