gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28697966 (EAS)
Genomes Max Group AF
0.28697966 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169713148C>A , CM000668.2:g.169713148C>A | GRCh38 |
| NC_000006.11:g.170113244C>A , CM000668.1:g.170113244C>A | GRCh37 |
| NC_000006.10:g.169855169C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339209.9:c.804-609G>T MANE Select | ENSP00000341805.4:n.804-609G>T | |
| ENST00000339209.8:c.804-609G>T | ENSP00000341805.4:n.804-609G>T | |
| ENST00000366780.8:c.798-609G>T | ENSP00000355743.4:n.798-609G>T | |
| ENST00000480008.1:n.768-609G>T | ||
| ENST00000612128.1:c.804-609G>T | ENSP00000479515.1:n.804-609G>T | |
| ENST00000621772.4:c.663-609G>T | ENSP00000484117.1:n.663-609G>T | |
| NM_018288.3:c.804-609G>T | NP_060758.2:n.804-609G>T | |
| NM_133325.2:c.798-609G>T | NP_579866.2:n.798-609G>T | |
| NM_018288.4:c.804-609G>T MANE Select | NP_060758.2:n.804-609G>T | |
| NM_133325.3:c.798-609G>T | NP_579866.2:n.798-609G>T |