gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35510257 (AFR)
Genomes Max Group AF
0.35510257 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76138591C>A , CM000679.2:g.76138591C>A | GRCh38 |
| NC_000017.10:g.74134672C>A , CM000679.1:g.74134672C>A | GRCh37 |
| NC_000017.9:g.71646267C>A | NCBI36 |
| NG_013345.1:g.7709G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322957.7:c.499-471G>T MANE Select | ENSP00000323880.4:n.499-471G>T | |
| ENST00000322957.6:c.499-471G>T | ENSP00000323880.4:n.499-471G>T | |
| NM_001454.3:c.499-471G>T | NP_001445.2:n.499-471G>T | |
| NM_001454.4:c.499-471G>T MANE Select | NP_001445.2:n.499-471G>T |