gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001778 (NFE)
Genomes Max Group AF
0.0000052 (NFE)
Exomes Max Group AF
0.00001702 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36291531G>T , CM000668.2:g.36291531G>T | GRCh38 |
| NC_000006.11:g.36259308G>T , CM000668.1:g.36259308G>T | GRCh37 |
| NC_000006.10:g.36367286G>T | NCBI36 |
| NG_032813.1:g.53364G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636260.2:c.417G>T MANE Select | ENSP00000490785.2:p.Thr139= | |
| ENST00000312917.9:c.132G>T | ENSP00000321116.5:p.Thr44= | |
| ENST00000388715.7:c.132G>T | ENSP00000373367.3:p.Thr44= | |
| ENST00000394571.3:c.417G>T | ENSP00000378072.2:p.Thr139= | |
| ENST00000457797.5:c.417G>T | ENSP00000391868.1:p.Thr139= | |
| NM_001145716.2:c.132G>T | NP_001139188.1:p.Thr44= | |
| NM_001145717.1:c.417G>T | NP_001139189.2:p.Thr139= | |
| NM_173676.2:c.132G>T | NP_775947.2:p.Thr44= | |
| XM_011514519.1:c.417G>T | XP_011512821.1:p.Thr139= | |
| XM_011514520.1:c.132G>T | XP_011512822.1:p.Thr44= | |
| XM_011514521.1:c.132G>T | XP_011512823.1:p.Thr44= | |
| XM_011514522.1:c.132G>T | XP_011512824.1:p.Thr44= | |
| XM_011514524.1:c.23G>T | XP_011512826.1:p.Arg8Leu | |
| XM_011514525.1:c.417G>T | XP_011512827.1:p.Thr139= | |
| XM_011514526.1:c.417G>T | XP_011512828.1:p.Thr139= | |
| XM_011514519.2:c.417G>T | XP_011512821.1:p.Thr139= | |
| XM_011514520.2:c.132G>T | XP_011512822.1:p.Thr44= | |
| XM_017010776.1:c.417G>T | XP_016866265.1:p.Thr139= | |
| XM_017010777.2:c.417G>T | XP_016866266.1:p.Thr139= | |
| XM_017010778.1:c.132G>T | XP_016866267.1:p.Thr44= | |
| NM_001374623.1:c.417G>T MANE Select | NP_001361552.1:p.Thr139= |