gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88065479C>T , CM000666.2:g.88065479C>T | GRCh38 |
| NC_000004.11:g.88986631C>T , CM000666.1:g.88986631C>T | GRCh37 |
| NC_000004.10:g.89205655C>T | NCBI36 |
| NG_008604.1:g.62812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2224C>T MANE Select | ENSP00000237596.2:p.Arg742Ter | |
| ENST00000237596.6:c.2224C>T | ENSP00000237596.2:p.Arg742Ter | |
| ENST00000502363.1:c.478C>T | ENSP00000425289.1:p.Arg160Ter | |
| ENST00000508588.5:c.478C>T | ENSP00000427131.1:p.Arg160Ter | |
| ENST00000511337.5:n.476C>T | ||
| ENST00000512858.1:n.436C>T | ||
| NM_000297.3:c.2224C>T | NP_000288.1:p.Arg742Ter | |
| XM_011532028.1:c.1999C>T | XP_011530330.1:p.Arg667Ter | |
| XM_011532029.1:c.1504C>T | XP_011530331.1:p.Arg502Ter | |
| XM_011532030.1:c.1384C>T | XP_011530332.1:p.Arg462Ter | |
| NR_156488.1:n.2190C>T | ||
| XM_011532028.2:c.1999C>T | XP_011530330.1:p.Arg667Ter | |
| XM_011532030.2:c.1384C>T | XP_011530332.1:p.Arg462Ter | |
| NM_000297.4:c.2224C>T MANE Select | NP_000288.1:p.Arg742Ter | |
| NR_156488.2:n.2202C>T |