MyVariant.info:
GRCh38
chr6:g.32444056C>A
gnomAD v4:
Joint Max Group AF
0.00000213 (NFE)
Exomes Max Group AF
0.0000026 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32444056C>A , CM000668.2:g.32444056C>A | GRCh38 |
| NC_000006.11:g.32411833C>A , CM000668.1:g.32411833C>A | GRCh37 |
| NC_000006.10:g.32519811C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.*11+135C>A MANE Select | ENSP00000378786.2:n.*11+135C>A | |
| ENST00000374982.5:c.*11+135C>A | ENSP00000364121.5:n.*11+135C>A | |
| ENST00000395388.6:c.*11+135C>A | ENSP00000378786.2:n.*11+135C>A | |
| NM_019111.4:c.*11+135C>A | NP_061984.2:n.*11+135C>A | |
| NM_019111.5:c.*11+135C>A MANE Select | NP_061984.2:n.*11+135C>A |