gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00048386 (AFR)
Genomes Max Group AF
0.00043948 (AFR)
Exomes Max Group AF
0.00042027 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45076006C>T , CM000669.2:g.45076006C>T | GRCh38 |
| NC_000007.13:g.45115605C>T , CM000669.1:g.45115605C>T | GRCh37 |
| NC_000007.12:g.45082130C>T | NCBI36 |
| NG_016295.1:g.80819C>T , LRG_664:g.80819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.1284C>T MANE Select | ENSP00000258781.7:p.Ile428= | |
| ENST00000648329.1:c.*2072C>T | ENSP00000496916.1:n.*2072C>T | |
| ENST00000258781.10:c.1284C>T | ENSP00000258781.6:p.Ile428= | |
| ENST00000381112.7:c.1347C>T | ENSP00000370503.3:p.Ile449= | |
| ENST00000461377.5:n.1637C>T | ||
| ENST00000474617.1:c.993C>T | ENSP00000419474.1:p.Ile331= | |
| ENST00000475551.5:c.1266C>T | ENSP00000417180.1:p.Ile422= | |
| ENST00000477605.1:n.1619C>T | ||
| ENST00000481194.1:n.4857C>T | ||
| ENST00000488727.5:c.*410C>T | ENSP00000417251.1:n.*410C>T | |
| ENST00000541586.5:c.1110C>T | ENSP00000444725.1:p.Ile370= | |
| ENST00000544363.5:c.1011C>T | ENSP00000438035.1:p.Ile337= | |
| NM_001029835.2:c.1347C>T , LRG_664t1:c.1347C>T | NP_001025006.1:p.Ile449= | |
| NM_001167934.1:c.1110C>T | NP_001161406.1:p.Ile370= | |
| NM_001167935.1:c.1011C>T | NP_001161407.1:p.Ile337= | |
| NM_031443.3:c.1284C>T , LRG_664t2:c.1284C>T | NP_113631.1:p.Ile428= | |
| NR_030770.1:n.1366C>T | ||
| XM_006715785.2:c.1173C>T | XP_006715848.1:p.Ile391= | |
| XM_006715786.2:c.1074C>T | XP_006715849.1:p.Ile358= | |
| XM_011515561.1:c.1470C>T | XP_011513863.1:p.Ile490= | |
| XM_011515562.1:c.1407C>T | XP_011513864.1:p.Ile469= | |
| XM_011515563.1:c.1296C>T | XP_011513865.1:p.Ile432= | |
| XM_011515564.1:c.1233C>T | XP_011513866.1:p.Ile411= | |
| XR_428088.2:n.1302C>T | ||
| NM_001363458.1:c.1407C>T | NP_001350387.1:p.Ile469= | |
| NM_001363459.1:c.1233C>T | NP_001350388.1:p.Ile411= | |
| XM_006715785.4:c.1173C>T | XP_006715848.1:p.Ile391= | |
| XM_006715786.3:c.1074C>T | XP_006715849.1:p.Ile358= | |
| XM_011515561.2:c.1470C>T | XP_011513863.1:p.Ile490= | |
| XM_011515563.3:c.1296C>T | XP_011513865.1:p.Ile432= | |
| XR_428088.3:n.1322C>T | ||
| NM_001363458.2:c.1407C>T | NP_001350387.1:p.Ile469= | |
| NM_001363459.2:c.1233C>T | NP_001350388.1:p.Ile411= | |
| NM_031443.4:c.1284C>T MANE Select | NP_113631.1:p.Ile428= | |
| NR_030770.2:n.1366C>T | ||
| NM_001167934.2:c.1110C>T | NP_001161406.1:p.Ile370= | |
| NM_001167935.2:c.1011C>T | NP_001161407.1:p.Ile337= |