gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000764 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830622A>G , CM000674.2:g.101830622A>G | GRCh38 |
| NC_000012.11:g.102224400A>G , CM000674.1:g.102224400A>G | GRCh37 |
| NC_000012.10:g.100748531A>G | NCBI36 |
| NG_021243.1:g.5246T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.54T>C MANE Select | ENSP00000299314.7:p.Tyr18= | |
| ENST00000647144.1:n.42T>C | ||
| ENST00000299314.11:c.54T>C | ENSP00000299314.7:p.Tyr18= | |
| ENST00000392919.4:c.54T>C | ENSP00000376651.4:p.Tyr18= | |
| ENST00000549165.1:c.54T>C | ENSP00000450413.1:p.Tyr18= | |
| ENST00000549940.5:c.54T>C | ENSP00000449150.1:p.Tyr18= | |
| NM_024312.4:c.54T>C | NP_077288.2:p.Tyr18= | |
| XM_006719593.2:c.54T>C | XP_006719656.1:p.Tyr18= | |
| XM_006719593.3:c.54T>C | XP_006719656.1:p.Tyr18= | |
| XM_017019961.1:c.-100+4T>C | XP_016875450.1:n.-100+4T>C | |
| XM_017019962.2:c.-1297T>C | XP_016875451.1:n.-1297T>C | |
| NM_024312.5:c.54T>C MANE Select | NP_077288.2:p.Tyr18= |