gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21560652C>T , CM000663.2:g.21560652C>T | GRCh38 |
| NC_000001.10:g.21887145C>T , CM000663.1:g.21887145C>T | GRCh37 |
| NC_000001.9:g.21759732C>T | NCBI36 |
| NG_008940.1:g.56288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.88C>T MANE Select | ENSP00000363973.3:p.Arg30Ter | |
| ENST00000374832.5:c.88C>T | ENSP00000363965.1:p.Arg30Ter | |
| ENST00000374840.7:c.88C>T | ENSP00000363973.3:p.Arg30Ter | |
| ENST00000468526.1:n.148C>T | ||
| ENST00000539907.5:c.-28C>T | ENSP00000437674.1:n.-28C>T | |
| ENST00000540617.5:c.-78C>T | ENSP00000442672.1:n.-78C>T | |
| NM_000478.4:c.88C>T | NP_000469.3:p.Arg30Ter | |
| NM_001127501.2:c.-78C>T | NP_001120973.2:n.-78C>T | |
| NM_001177520.1:c.-28C>T | NP_001170991.1:n.-28C>T | |
| XM_005245818.1:c.88C>T | XP_005245875.1:p.Arg30Ter | |
| XM_005245820.2:c.88C>T | XP_005245877.1:p.Arg30Ter | |
| XM_006710546.1:c.88C>T | XP_006710609.1:p.Arg30Ter | |
| NM_000478.5:c.88C>T | NP_000469.3:p.Arg30Ter | |
| NM_001127501.3:c.-78C>T | NP_001120973.2:n.-78C>T | |
| NM_001177520.2:c.-28C>T | NP_001170991.1:n.-28C>T | |
| XM_006710546.3:c.88C>T | XP_006710609.1:p.Arg30Ter | |
| NM_000478.6:c.88C>T MANE Select | NP_000469.3:p.Arg30Ter | |
| NM_001127501.4:c.-78C>T | NP_001120973.2:n.-78C>T | |
| NM_001177520.3:c.-28C>T | NP_001170991.1:n.-28C>T | |
| NM_001369803.2:c.88C>T | NP_001356732.1:p.Arg30Ter | |
| NM_001369804.2:c.88C>T | NP_001356733.1:p.Arg30Ter | |
| NM_001369805.2:c.88C>T | NP_001356734.1:p.Arg30Ter |