gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001063 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929885G>T , CM000663.2:g.42929885G>T | GRCh38 |
| NC_000001.10:g.43395556G>T , CM000663.1:g.43395556G>T | GRCh37 |
| NC_000001.9:g.43168143G>T | NCBI36 |
| NG_008232.1:g.34292C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.667C>A MANE Select | ENSP00000416293.2:p.Arg223= | |
| ENST00000669445.1:c.44C>A | ||
| ENST00000674765.1:c.667C>A | ENSP00000501811.1:p.Arg223= | |
| ENST00000675112.1:n.690C>A | ||
| ENST00000676254.1:n.1116C>A | ||
| ENST00000426263.7:c.667C>A | ENSP00000416293.2:p.Arg223= | |
| ENST00000439722.2:c.546C>A | ENSP00000395521.2:n.546C>A | |
| ENST00000475162.3:c.415+741C>A | ||
| ENST00000630287.2:c.517-105C>A | ENSP00000486694.1:n.517-105C>A | |
| NM_006516.2:c.667C>A | NP_006507.2:p.Arg223= | |
| NM_006516.3:c.667C>A | NP_006507.2:p.Arg223= | |
| NM_006516.4:c.667C>A MANE Select | NP_006507.2:p.Arg223= |