gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24078083 (NFE)
Genomes Max Group AF
0.24078083 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5309342G>A , CM000682.2:g.5309342G>A | GRCh38 |
| NC_000020.10:g.5289988G>A , CM000682.1:g.5289988G>A | GRCh37 |
| NC_000020.9:g.5237988G>A | NCBI36 |
| NG_008132.1:g.10028C>T | |
| NG_008132.2:g.10028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.458+4570C>T | ENSP00000217270.3:n.458+4570C>T | |
| ENST00000678059.1:c.350+4570C>T | ENSP00000503366.1:n.350+4570C>T | |
| ENST00000678254.1:c.458+4570C>T MANE Select | ENSP00000504128.1:n.458+4570C>T | |
| ENST00000217270.3:c.458+4570C>T | ENSP00000217270.3:n.458+4570C>T | |
| NM_144773.2:c.458+4570C>T | NP_658986.1:n.458+4570C>T | |
| XM_005260663.2:c.458+4570C>T | XP_005260720.1:n.458+4570C>T | |
| XM_011529159.1:c.350+4570C>T | XP_011527461.1:n.350+4570C>T | |
| NM_144773.3:c.458+4570C>T | NP_658986.1:n.458+4570C>T | |
| XM_017027646.1:c.458+4570C>T | XP_016883135.1:n.458+4570C>T | |
| NM_144773.4:c.458+4570C>T MANE Select | NP_658986.1:n.458+4570C>T |