gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4949727 (AFR)
Genomes Max Group AF
0.4949727 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1878079G>A , CM000674.2:g.1878079G>A | GRCh38 |
| NC_000012.11:g.1987245G>A , CM000674.1:g.1987245G>A | GRCh37 |
| NC_000012.10:g.1857506G>A | NCBI36 |
| NG_012663.1:g.45626C>T | |
| NG_012663.2:g.45626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382722.10:c.1719+236C>T MANE Select | ENSP00000372169.4:n.1719+236C>T | |
| ENST00000280663.12:n.1912+236C>T | ||
| ENST00000382722.9:c.1719+236C>T | ENSP00000372169.4:n.1719+236C>T | |
| ENST00000444595.6:c.1771+236C>T | ENSP00000403371.2:n.1771+236C>T | |
| ENST00000585708.5:c.1527+236C>T | ENSP00000467697.1:n.1527+236C>T | |
| ENST00000585732.1:c.1374+236C>T | ENSP00000468080.1:n.1374+236C>T | |
| ENST00000586184.5:c.1719+236C>T | ENSP00000465060.1:n.1719+236C>T | |
| ENST00000587995.5:c.1644+877C>T | ENSP00000465372.1:n.1644+877C>T | |
| ENST00000588077.5:c.1527+236C>T | ENSP00000468530.1:n.1527+236C>T | |
| NM_172364.4:c.1719+236C>T | NP_758952.4:n.1719+236C>T | |
| XM_011521041.1:c.1728+236C>T | XP_011519343.1:n.1728+236C>T | |
| XR_931529.1:n.4172+236C>T | ||
| XR_931530.1:n.4172+236C>T | ||
| XR_931531.1:n.4163+236C>T | ||
| XM_011521041.2:c.1728+236C>T | XP_011519343.1:n.1728+236C>T | |
| NM_172364.5:c.1719+236C>T MANE Select | NP_758952.4:n.1719+236C>T |