ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Genomes Max Group AF
0.00004764 (NFE)
Exomes Max Group AF
0.00001914 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222203C>T , CM000679.2:g.7222203C>T | GRCh38 |
| NC_000017.10:g.7125522C>T , CM000679.1:g.7125522C>T | GRCh37 |
| NC_000017.9:g.7066246C>T | NCBI36 |
| NG_007975.1:g.7370C>T | |
| NG_008391.2:g.2848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.779C>T MANE Select | ENSP00000349297.5:p.Thr260Met | |
| ENST00000322910.9:c.*734C>T | ENSP00000325395.5:n.*734C>T | |
| ENST00000350303.9:c.713C>T | ENSP00000344152.5:p.Thr238Met | |
| ENST00000356839.9:c.779C>T | ENSP00000349297.5:p.Thr260Met | |
| ENST00000543245.6:c.848C>T | ENSP00000438689.2:p.Thr283Met | |
| ENST00000577191.5:n.951C>T | ||
| ENST00000581378.5:c.497C>T | ||
| ENST00000582379.1:n.163C>T | ||
| NM_000018.3:c.779C>T | NP_000009.1:p.Thr260Met | |
| NM_001033859.2:c.713C>T | NP_001029031.1:p.Thr238Met | |
| NM_001270447.1:c.848C>T | NP_001257376.1:p.Thr283Met | |
| NM_001270448.1:c.551C>T | NP_001257377.1:p.Thr184Met | |
| XM_006721516.2:c.779C>T | XP_006721579.2:p.Thr260Met | |
| XM_011523829.1:c.779C>T | XP_011522131.1:p.Thr260Met | |
| XM_011523830.1:c.779C>T | XP_011522132.1:p.Thr260Met | |
| XR_934021.1:n.886C>T | ||
| XR_934022.1:n.886C>T | ||
| XR_934023.1:n.886C>T | ||
| XM_006721516.3:c.779C>T | XP_006721579.2:p.Thr260Met | |
| XM_011523829.2:c.779C>T | XP_011522131.1:p.Thr260Met | |
| XM_011523830.2:c.779C>T | XP_011522132.1:p.Thr260Met | |
| XM_024450741.1:c.779C>T | XP_024306509.1:p.Thr260Met | |
| XR_934021.2:n.838C>T | ||
| XR_934022.2:n.838C>T | ||
| XR_934023.2:n.838C>T | ||
| NM_000018.4:c.779C>T MANE Select | NP_000009.1:p.Thr260Met | |
| NM_001033859.3:c.713C>T | NP_001029031.1:p.Thr238Met | |
| NM_001270447.2:c.848C>T | NP_001257376.1:p.Thr283Met | |
| NM_001270448.2:c.551C>T | NP_001257377.1:p.Thr184Met |