Revel Score:
ENST00000299314 (MANE Select)
0.952
ENST00000549940
0.952
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004344 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770185A>G , CM000674.2:g.101770185A>G | GRCh38 |
| NC_000012.11:g.102163963A>G , CM000674.1:g.102163963A>G | GRCh37 |
| NC_000012.10:g.100688094A>G | NCBI36 |
| NG_021243.1:g.65683T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1120T>C MANE Select | ENSP00000299314.7:p.Phe374Leu | |
| ENST00000299314.11:c.1120T>C | ENSP00000299314.7:p.Phe374Leu | |
| ENST00000549940.5:c.1120T>C | ENSP00000449150.1:p.Phe374Leu | |
| NM_024312.4:c.1120T>C | NP_077288.2:p.Phe374Leu | |
| XM_006719593.2:c.1120T>C | XP_006719656.1:p.Phe374Leu | |
| XM_011538731.1:c.1039T>C | XP_011537033.1:p.Phe347Leu | |
| XM_006719593.3:c.1120T>C | XP_006719656.1:p.Phe374Leu | |
| XM_011538731.2:c.1039T>C | XP_011537033.1:p.Phe347Leu | |
| XM_017019961.1:c.904T>C | XP_016875450.1:p.Phe302Leu | |
| XM_017019962.2:c.-108T>C | XP_016875451.1:n.-108T>C | |
| NM_024312.5:c.1120T>C MANE Select | NP_077288.2:p.Phe374Leu |