gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00080302 (MID)
Genomes Max Group AF
0.0006317 (NFE)
Exomes Max Group AF
0.00083837 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19707970C>T , CM000686.2:g.19707970C>T | GRCh38 |
| NC_000024.9:g.21869856C>T , CM000686.1:g.21869856C>T | GRCh37 |
| NC_000024.8:g.20329244C>T | NCBI36 |
| NG_032920.1:g.41970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.3363G>A MANE Select | ENSP00000322408.4:p.Gly1121= | |
| ENST00000317961.8:c.3363G>A | ENSP00000322408.4:p.Gly1121= | |
| ENST00000382806.6:c.3192G>A | ENSP00000372256.2:p.Gly1064= | |
| ENST00000415360.1:c.279G>A | ENSP00000389433.1:p.Gly93= | |
| ENST00000440077.5:c.3240G>A | ENSP00000398543.1:p.Gly1080= | |
| ENST00000469599.6:n.1961G>A | ||
| ENST00000492117.1:n.3255G>A | ||
| ENST00000541639.5:c.3456G>A | ENSP00000444293.1:p.Gly1152= | |
| NM_001146705.1:c.3456G>A | NP_001140177.1:p.Gly1152= | |
| NM_001146706.1:c.3192G>A | NP_001140178.1:p.Gly1064= | |
| NM_004653.4:c.3363G>A | NP_004644.2:p.Gly1121= | |
| XM_005262560.1:c.3228G>A | XP_005262617.1:p.Gly1076= | |
| XM_005262561.1:c.3132G>A | XP_005262618.1:p.Gly1044= | |
| XM_011531468.1:c.3285G>A | XP_011529770.1:p.Gly1095= | |
| XR_244571.2:n.3651G>A | ||
| XR_430568.2:n.3985G>A | ||
| XM_005262560.3:c.3228G>A | XP_005262617.1:p.Gly1076= | |
| XM_005262561.3:c.3132G>A | XP_005262618.1:p.Gly1044= | |
| XM_011531468.3:c.3285G>A | XP_011529770.1:p.Gly1095= | |
| XM_024452495.1:c.1353G>A | XP_024308263.1:p.Gly451= | |
| XM_024452496.1:c.1119G>A | XP_024308264.1:p.Gly373= | |
| XR_001756009.2:n.4101G>A | ||
| XR_001756010.2:n.4101G>A | ||
| XR_001756011.2:n.3966G>A | ||
| XR_001756012.2:n.4114G>A | ||
| XR_001756013.2:n.3432G>A | ||
| XR_002958832.1:n.3533G>A | ||
| XR_002958834.1:n.3757G>A | ||
| XR_002958835.1:n.3640G>A | ||
| XR_002958836.1:n.4323G>A | ||
| XR_002958837.1:n.4130G>A | ||
| XR_244571.4:n.3650G>A | ||
| XR_430568.4:n.3984G>A | ||
| NM_001146706.2:c.3192G>A | NP_001140178.1:p.Gly1064= | |
| NM_004653.5:c.3363G>A MANE Select | NP_004644.2:p.Gly1121= | |
| NM_001146705.2:c.3456G>A | NP_001140177.1:p.Gly1152= |