gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005257 (SAS)
Exomes Max Group AF
0.0000553 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15475447G>C , CM000665.2:g.15475447G>C | GRCh38 |
| NC_000003.11:g.15516954G>C , CM000665.1:g.15516954G>C | GRCh37 |
| NC_000003.10:g.15491958G>C | NCBI36 |
| NG_009032.1:g.51305C>G | |
| NG_009032.2:g.51305C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383788.10:c.506C>G MANE Select | ENSP00000373298.3:p.Ser169Ter | |
| ENST00000604401.2:n.502C>G | ||
| ENST00000679838.1:c.*268C>G | ENSP00000505708.1:n.*268C>G | |
| ENST00000681097.1:c.506C>G | ENSP00000505397.1:p.Ser169Ter | |
| ENST00000383781.8:c.476C>G | ENSP00000373291.3:p.Ser159Ter | |
| ENST00000383786.9:c.404C>G | ENSP00000373296.3:p.Ser135Ter | |
| ENST00000383788.9:c.506C>G | ENSP00000373298.3:p.Ser169Ter | |
| ENST00000603808.5:c.506C>G | ENSP00000474271.1:p.Ser169Ter | |
| ENST00000604401.1:n.502C>G | ||
| ENST00000605797.1:c.335C>G | ENSP00000474936.1:p.Ser112Ter | |
| NM_005677.3:c.506C>G | NP_005668.2:p.Ser169Ter | |
| NM_080538.2:c.476C>G | NP_536799.1:p.Ser159Ter | |
| NM_080539.3:c.404C>G | NP_536800.2:p.Ser135Ter | |
| NM_005677.4:c.506C>G MANE Select | NP_005668.2:p.Ser169Ter | |
| NM_080539.4:c.404C>G | NP_536800.2:p.Ser135Ter |