gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42133518 (EAS)
Genomes Max Group AF
0.42133518 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204165394G>A , CM000663.2:g.204165394G>A | GRCh38 |
| NC_000001.10:g.204134522G>A , CM000663.1:g.204134522G>A | GRCh37 |
| NC_000001.9:g.202401145G>A | NCBI36 |
| NG_012122.1:g.5944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.98+802C>T MANE Select | ENSP00000272190.8:n.98+802C>T | |
| ENST00000638118.1:c.-16-3231C>T | ENSP00000490307.1:n.-16-3231C>T | |
| ENST00000272190.8:c.98+802C>T | ENSP00000272190.8:n.98+802C>T | |
| NM_000537.3:c.98+802C>T | NP_000528.1:n.98+802C>T | |
| NM_000537.4:c.98+802C>T MANE Select | NP_000528.1:n.98+802C>T |