gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069311 (NFE)
Genomes Max Group AF
0.00039209 (NFE)
Exomes Max Group AF
0.00070405 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74312024C>A , CM000679.2:g.74312024C>A | GRCh38 |
| NC_000017.10:g.72308163C>A , CM000679.1:g.72308163C>A | GRCh37 |
| NC_000017.9:g.69819758C>A | NCBI36 |
| NG_016865.1:g.42778C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.1516C>A MANE Select | ENSP00000308312.6:p.Arg506= | |
| ENST00000311014.10:c.1516C>A | ENSP00000308312.6:p.Arg506= | |
| ENST00000446837.2:c.1516C>A | ENSP00000400252.2:p.Arg506= | |
| ENST00000579055.5:c.*887C>A | ENSP00000462767.1:n.*887C>A | |
| ENST00000579490.5:c.1687C>A | ENSP00000464197.1:p.Arg563= | |
| ENST00000582036.5:c.1480C>A | ENSP00000461950.1:p.Arg494= | |
| NM_001172810.1:c.1480C>A | NP_001166281.1:p.Arg494= | |
| NM_023036.4:c.1516C>A | NP_075462.3:p.Arg506= | |
| XM_011525125.1:c.1516C>A | XP_011523427.1:p.Arg506= | |
| XR_429915.2:n.1602C>A | ||
| XR_429916.2:n.1616+1861C>A | ||
| XR_934518.1:n.1640C>A | ||
| XR_934519.1:n.1637C>A | ||
| XR_934520.1:n.1713C>A | ||
| XR_934521.1:n.1625C>A | ||
| XR_934522.1:n.1613C>A | ||
| XR_934523.1:n.1622C>A | ||
| XR_934524.1:n.1640C>A | ||
| XR_934525.1:n.1604C>A | ||
| XR_934526.1:n.1526C>A | ||
| XR_934527.1:n.1638C>A | ||
| XR_934528.1:n.1638C>A | ||
| XR_934529.1:n.1519C>A | ||
| XR_934530.1:n.1592C>A | ||
| XR_934531.1:n.1518C>A | ||
| NM_001172810.2:c.1480C>A | NP_001166281.1:p.Arg494= | |
| NM_001353167.1:c.1516C>A | NP_001340096.1:p.Arg506= | |
| NM_023036.5:c.1516C>A | NP_075462.3:p.Arg506= | |
| NR_148379.1:n.1541C>A | ||
| XM_011525125.2:c.1516C>A | XP_011523427.1:p.Arg506= | |
| XM_024450874.1:c.1516C>A | XP_024306642.1:p.Arg506= | |
| XM_024450875.1:c.1516C>A | XP_024306643.1:p.Arg506= | |
| XM_024450876.1:c.1516C>A | XP_024306644.1:p.Arg506= | |
| XM_024450877.1:c.1516C>A | XP_024306645.1:p.Arg506= | |
| XM_024450878.1:c.1516C>A | XP_024306646.1:p.Arg506= | |
| XM_024450879.1:c.1516C>A | XP_024306647.1:p.Arg506= | |
| XM_024450880.1:c.1480C>A | XP_024306648.1:p.Arg494= | |
| XM_024450881.1:c.1402C>A | XP_024306649.1:p.Arg468= | |
| XM_024450882.1:c.1480C>A | XP_024306650.1:p.Arg494= | |
| XM_024450883.1:c.1516C>A | XP_024306651.1:p.Arg506= | |
| XM_024450884.1:c.1516C>A | XP_024306652.1:p.Arg506= | |
| XM_024450885.1:c.1087C>A | XP_024306653.1:p.Arg363= | |
| XM_024450886.1:c.1087C>A | XP_024306654.1:p.Arg363= | |
| NM_023036.6:c.1516C>A MANE Select | NP_075462.3:p.Arg506= | |
| NM_001172810.3:c.1480C>A | NP_001166281.1:p.Arg494= | |
| NM_001353167.2:c.1516C>A | NP_001340096.1:p.Arg506= | |
| NR_148379.2:n.1517C>A |