gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35429246 (SAS)
Genomes Max Group AF
0.35429246 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79460955T>C , CM000667.2:g.79460955T>C | GRCh38 |
| NC_000005.9:g.78756778T>C , CM000667.1:g.78756778T>C | GRCh37 |
| NC_000005.8:g.78792534T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334082.11:c.6-3937A>G MANE Select | ENSP00000334382.6:n.6-3937A>G | |
| ENST00000282260.10:c.6-3937A>G | ENSP00000282260.6:n.6-3937A>G | |
| ENST00000334082.10:c.6-3937A>G | ENSP00000334382.6:n.6-3937A>G | |
| ENST00000508576.5:c.6-3937A>G | ENSP00000426651.1:n.6-3937A>G | |
| ENST00000535690.1:c.5+51815A>G | ENSP00000441587.1:n.5+51815A>G | |
| NM_001277077.1:c.6-3937A>G | NP_001264006.1:n.6-3937A>G | |
| NM_001277078.1:c.6-3937A>G | NP_001264007.1:n.6-3937A>G | |
| NM_004272.4:c.6-3937A>G | NP_004263.1:n.6-3937A>G | |
| XM_017010059.2:c.6-3937A>G | XP_016865548.1:n.6-3937A>G | |
| NM_004272.5:c.6-3937A>G MANE Select | NP_004263.1:n.6-3937A>G |