Revel Score:
ENST00000345060 (MANE Select)
0.596
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001612 (SAS)
Exomes Max Group AF
0.00001007 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965589A>C , CM000670.2:g.37965589A>C | GRCh38 |
| NC_000008.10:g.37823107A>C , CM000670.1:g.37823107A>C | GRCh37 |
| NC_000008.9:g.37942264A>C | NCBI36 |
| NG_011936.1:g.6078T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.881T>G MANE Select | ENSP00000343782.3:p.Leu294Trp | |
| ENST00000520341.2:n.1009T>G | ||
| ENST00000647937.1:c.365T>G | ENSP00000497740.1:p.Leu122Trp | |
| ENST00000345060.4:c.881T>G | ENSP00000343782.3:p.Leu294Trp | |
| ENST00000520341.1:n.156T>G | ||
| ENST00000614635.1:c.881T>G | ENSP00000480325.1:p.Leu294Trp | |
| NM_000025.2:c.881T>G | NP_000016.1:p.Leu294Trp | |
| NM_000025.3:c.881T>G MANE Select | NP_000016.1:p.Leu294Trp |