gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51663559 (EAS)
Genomes Max Group AF
0.51663559 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71944848A>T , CM000674.2:g.71944848A>T | GRCh38 |
| NC_000012.11:g.72338628A>T , CM000674.1:g.72338628A>T | GRCh37 |
| NC_000012.10:g.70624895A>T | NCBI36 |
| NG_008279.1:g.11003A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.540+162A>T MANE Select | ENSP00000329093.3:n.540+162A>T | |
| ENST00000333850.3:c.540+162A>T | ENSP00000329093.3:n.540+162A>T | |
| ENST00000546576.1:n.550+162A>T | ||
| NM_173353.3:c.540+162A>T | NP_775489.2:n.540+162A>T | |
| XR_245894.2:n.640+162A>T | ||
| XR_001748575.1:n.640+162A>T | ||
| NM_173353.4:c.540+162A>T MANE Select | NP_775489.2:n.540+162A>T |