gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024605 (NFE)
Genomes Max Group AF
0.00013512 (NFE)
Exomes Max Group AF
0.00024855 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74312152C>T , CM000679.2:g.74312152C>T | GRCh38 |
| NC_000017.10:g.72308291C>T , CM000679.1:g.72308291C>T | GRCh37 |
| NC_000017.9:g.69819886C>T | NCBI36 |
| NG_016865.1:g.42906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.1644C>T MANE Select | ENSP00000308312.6:p.Ala548= | |
| ENST00000311014.10:c.1644C>T | ENSP00000308312.6:p.Ala548= | |
| ENST00000446837.2:c.1644C>T | ENSP00000400252.2:p.Ala548= | |
| ENST00000579055.5:c.*938+77C>T | ENSP00000462767.1:n.*938+77C>T | |
| ENST00000579490.5:c.1815C>T | ENSP00000464197.1:p.Ala605= | |
| ENST00000582036.5:c.1608C>T | ENSP00000461950.1:p.Ala536= | |
| NM_001172810.1:c.1608C>T | NP_001166281.1:p.Ala536= | |
| NM_023036.4:c.1644C>T | NP_075462.3:p.Ala548= | |
| XM_011525125.1:c.1644C>T | XP_011523427.1:p.Ala548= | |
| XR_429915.2:n.1730C>T | ||
| XR_429916.2:n.1617-1969C>T | ||
| XR_934518.1:n.1768C>T | ||
| XR_934519.1:n.1765C>T | ||
| XR_934520.1:n.1841C>T | ||
| XR_934521.1:n.1753C>T | ||
| XR_934522.1:n.1741C>T | ||
| XR_934523.1:n.1750C>T | ||
| XR_934524.1:n.1768C>T | ||
| XR_934525.1:n.1732C>T | ||
| XR_934526.1:n.1654C>T | ||
| XR_934527.1:n.1689+77C>T | ||
| XR_934528.1:n.1689+77C>T | ||
| XR_934529.1:n.1647C>T | ||
| XR_934530.1:n.1720C>T | ||
| XR_934531.1:n.1569+77C>T | ||
| XR_934970.1:n.453G>A | ||
| XR_934971.1:n.287G>A | ||
| NM_001172810.2:c.1608C>T | NP_001166281.1:p.Ala536= | |
| NM_001353167.1:c.1644C>T | NP_001340096.1:p.Ala548= | |
| NM_023036.5:c.1644C>T | NP_075462.3:p.Ala548= | |
| NR_148379.1:n.1592+77C>T | ||
| XM_011525125.2:c.1644C>T | XP_011523427.1:p.Ala548= | |
| XM_024450874.1:c.1644C>T | XP_024306642.1:p.Ala548= | |
| XM_024450875.1:c.1644C>T | XP_024306643.1:p.Ala548= | |
| XM_024450876.1:c.1644C>T | XP_024306644.1:p.Ala548= | |
| XM_024450877.1:c.1644C>T | XP_024306645.1:p.Ala548= | |
| XM_024450878.1:c.1644C>T | XP_024306646.1:p.Ala548= | |
| XM_024450879.1:c.1644C>T | XP_024306647.1:p.Ala548= | |
| XM_024450880.1:c.1608C>T | XP_024306648.1:p.Ala536= | |
| XM_024450881.1:c.1530C>T | XP_024306649.1:p.Ala510= | |
| XM_024450882.1:c.1608C>T | XP_024306650.1:p.Ala536= | |
| XM_024450883.1:c.1567+77C>T | XP_024306651.1:n.1567+77C>T | |
| XM_024450884.1:c.1567+77C>T | XP_024306652.1:n.1567+77C>T | |
| XM_024450885.1:c.1215C>T | XP_024306653.1:p.Ala405= | |
| XM_024450886.1:c.1215C>T | XP_024306654.1:p.Ala405= | |
| XR_934970.2:n.457G>A | ||
| XR_934971.2:n.292G>A | ||
| NM_023036.6:c.1644C>T MANE Select | NP_075462.3:p.Ala548= | |
| NM_001172810.3:c.1608C>T | NP_001166281.1:p.Ala536= | |
| NM_001353167.2:c.1644C>T | NP_001340096.1:p.Ala548= | |
| NR_148379.2:n.1568+77C>T |