gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148152474A>G , CM000666.2:g.148152474A>G | GRCh38 |
| NC_000004.11:g.149073625A>G , CM000666.1:g.149073625A>G | GRCh37 |
| NC_000004.10:g.149293075A>G | NCBI36 |
| NG_013350.1:g.295048T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2505T>C MANE Select | ENSP00000350815.3:p.Phe835= | |
| ENST00000342437.8:c.2015-32186T>C | ENSP00000343907.4:n.2015-32186T>C | |
| ENST00000344721.8:c.2505T>C | ENSP00000341390.4:p.Phe835= | |
| ENST00000358102.7:c.2505T>C | ENSP00000350815.3:p.Phe835= | |
| ENST00000503174.1:n.434T>C | ||
| ENST00000503313.1:n.702T>C | ||
| ENST00000511528.1:c.2517T>C | ENSP00000421481.1:p.Phe839= | |
| ENST00000512865.5:c.2154T>C | ENSP00000423510.1:p.Phe718= | |
| ENST00000625323.2:c.2517T>C | ENSP00000486719.1:p.Phe839= | |
| NM_000901.4:c.2505T>C | NP_000892.2:p.Phe835= | |
| NM_001166104.1:c.2154T>C | NP_001159576.1:p.Phe718= | |
| XM_011531975.1:c.2517T>C | XP_011530277.1:p.Phe839= | |
| XM_011531976.1:c.2517T>C | XP_011530278.1:p.Phe839= | |
| XM_011531977.1:c.2517T>C | XP_011530279.1:p.Phe839= | |
| XM_011531978.1:c.2517T>C | XP_011530280.1:p.Phe839= | |
| NM_001354819.1:c.2154T>C | NP_001341748.1:p.Phe718= | |
| NR_148974.1:n.2378-32186T>C | ||
| XM_011531978.2:c.2517T>C | XP_011530280.1:p.Phe839= | |
| NM_000901.5:c.2505T>C MANE Select | NP_000892.2:p.Phe835= | |
| NM_001166104.2:c.2154T>C | NP_001159576.1:p.Phe718= | |
| NR_148974.2:n.2272-32186T>C |