Revel Score:
ENST00000327047 (MANE Select)
0.708
ENST00000328863
0.708
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002584 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.0000237 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972582C>T , CM000665.2:g.150972582C>T | GRCh38 |
| NC_000003.11:g.150690369C>T , CM000665.1:g.150690369C>T | GRCh37 |
| NC_000003.10:g.152173059C>T | NCBI36 |
| NG_009168.1:g.5418G>A , LRG_700:g.5418G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.127G>A MANE Select | ENSP00000322280.1:p.Gly43Arg | |
| ENST00000468836.2:c.103G>A | ENSP00000419892.2:p.Gly35Arg | |
| ENST00000327047.5:c.127G>A | ENSP00000322280.1:p.Gly43Arg | |
| ENST00000328863.8:c.127G>A | ENSP00000329158.4:p.Gly43Arg | |
| ENST00000468836.1:c.-274G>A | ENSP00000419892.1:n.-274G>A | |
| ENST00000472224.1:n.133G>A | ||
| NM_001195794.1:c.127G>A , LRG_700t1:c.127G>A | NP_001182723.1:p.Gly43Arg | |
| NM_001256819.1:c.127G>A | NP_001243748.1:p.Gly43Arg | |
| NM_174878.2:c.127G>A | NP_777367.1:p.Gly43Arg | |
| NR_046380.2:n.418G>A | ||
| XR_924167.1:n.439G>A | ||
| NM_001256819.2:c.127G>A | NP_001243748.1:p.Gly43Arg | |
| NM_174878.3:c.127G>A MANE Select | NP_777367.1:p.Gly43Arg | |
| NR_046380.3:n.146G>A |