gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003037 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002877 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046864C>T , CM000666.2:g.88046864C>T | GRCh38 |
| NC_000004.11:g.88968016C>T , CM000666.1:g.88968016C>T | GRCh37 |
| NC_000004.10:g.89187040C>T | NCBI36 |
| NG_008604.1:g.44197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1542C>T MANE Select | ENSP00000237596.2:p.Ile514= | |
| ENST00000237596.6:c.1542C>T | ENSP00000237596.2:p.Ile514= | |
| ENST00000508588.5:c.-199+3407C>T | ENSP00000427131.1:n.-199+3407C>T | |
| NM_000297.3:c.1542C>T | NP_000288.1:p.Ile514= | |
| XM_011532028.1:c.1317C>T | XP_011530330.1:p.Ile439= | |
| XM_011532029.1:c.822C>T | XP_011530331.1:p.Ile274= | |
| XM_011532030.1:c.702C>T | XP_011530332.1:p.Ile234= | |
| XR_244632.2:n.1637C>T | ||
| NR_156488.1:n.1629C>T | ||
| XM_011532028.2:c.1317C>T | XP_011530330.1:p.Ile439= | |
| XM_011532030.2:c.702C>T | XP_011530332.1:p.Ile234= | |
| NM_000297.4:c.1542C>T MANE Select | NP_000288.1:p.Ile514= | |
| NR_156488.2:n.1641C>T |