Revel Score:
ENST00000420978
0.154
ENST00000344895 (MANE Select)
0.154
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071960G>A , CM000667.2:g.111071960G>A | GRCh38 |
| NC_000005.9:g.110407658G>A , CM000667.1:g.110407658G>A | GRCh37 |
| NC_000005.8:g.110435557G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.70G>A MANE Select | ENSP00000339804.3:p.Gly24Arg | |
| ENST00000344895.3:c.70G>A | ENSP00000339804.3:p.Gly24Arg | |
| ENST00000420978.6:c.70G>A | ENSP00000399099.2:p.Gly24Arg | |
| NM_033035.4:c.70G>A | NP_149024.1:p.Gly24Arg | |
| NR_045089.1:n.1474G>A | ||
| NM_033035.5:c.70G>A MANE Select | NP_149024.1:p.Gly24Arg | |
| NR_045089.2:n.1492G>A |