gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71028682 (AFR)
Genomes Max Group AF
0.71028682 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83213997G>T , CM000668.2:g.83213997G>T | GRCh38 |
| NC_000006.11:g.83923716G>T , CM000668.1:g.83923716G>T | GRCh37 |
| NC_000006.10:g.83980435G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369705.4:c.1549-1903C>A MANE Select | ENSP00000358719.3:n.1549-1903C>A | |
| ENST00000369705.3:c.1549-1903C>A | ENSP00000358719.3:n.1549-1903C>A | |
| NM_002395.5:c.1549-1903C>A | NP_002386.1:n.1549-1903C>A | |
| XM_011535836.1:c.1324-1903C>A | XP_011534138.1:n.1324-1903C>A | |
| XM_011535836.3:c.1324-1903C>A | XP_011534138.1:n.1324-1903C>A | |
| NM_002395.6:c.1549-1903C>A MANE Select | NP_002386.1:n.1549-1903C>A |