gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00035775 (NFE)
Genomes Max Group AF
0.00023044 (NFE)
Exomes Max Group AF
0.00035984 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150332761A>G , CM000663.2:g.150332761A>G | GRCh38 |
| NC_000001.10:g.150305232A>G , CM000663.1:g.150305232A>G | GRCh37 |
| NC_000001.9:g.148571856A>G | NCBI36 |
| NG_008245.1:g.16305A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324862.7:c.501A>G MANE Select | ENSP00000315379.6:p.Thr167= | |
| ENST00000324862.6:c.501A>G | ENSP00000315379.6:p.Thr167= | |
| ENST00000467329.5:n.770A>G | ||
| ENST00000467514.1:n.825A>G | ||
| ENST00000496202.5:n.759A>G | ||
| NM_004698.2:c.501A>G | NP_004689.1:p.Thr167= | |
| XM_011510128.1:c.501A>G | XP_011508430.1:p.Thr167= | |
| XM_011510129.1:c.96A>G | XP_011508431.1:p.Thr32= | |
| XM_011510130.1:c.69A>G | XP_011508432.1:p.Thr23= | |
| XM_011510131.1:c.501A>G | XP_011508433.1:p.Thr167= | |
| XM_011510132.1:c.501A>G | XP_011508434.1:p.Thr167= | |
| XR_241103.1:n.603A>G | ||
| XR_241104.1:n.603A>G | ||
| XR_921997.1:n.603A>G | ||
| XR_921998.1:n.603A>G | ||
| NM_001350529.1:c.96A>G | NP_001337458.1:p.Thr32= | |
| NM_004698.3:c.501A>G | NP_004689.1:p.Thr167= | |
| NR_146766.1:n.674A>G | ||
| NR_146767.1:n.770A>G | ||
| NR_146768.1:n.674A>G | ||
| NR_146769.1:n.674A>G | ||
| XM_011510130.3:c.69A>G | XP_011508432.1:p.Thr23= | |
| XM_011510131.3:c.501A>G | XP_011508433.1:p.Thr167= | |
| XM_011510132.3:c.501A>G | XP_011508434.1:p.Thr167= | |
| XM_017002790.1:c.69A>G | XP_016858279.1:p.Thr23= | |
| XM_017002791.2:c.501A>G | XP_016858280.1:p.Thr167= | |
| XR_001737536.2:n.595A>G | ||
| XR_001737537.2:n.595A>G | ||
| XR_001737540.2:n.1347A>G | ||
| XR_001737541.2:n.595A>G | ||
| XR_002958009.1:n.1100A>G | ||
| XR_002958010.1:n.595A>G | ||
| XR_002958012.1:n.595A>G | ||
| XR_241103.3:n.595A>G | ||
| XR_921997.3:n.595A>G | ||
| XR_921998.3:n.595A>G | ||
| NM_004698.4:c.501A>G MANE Select | NP_004689.1:p.Thr167= |