Revel Score:
ENST00000297268 (MANE Select)
0.986
ENST00000545487
0.986
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420604G>A , CM000669.2:g.94420604G>A | GRCh38 |
| NC_000007.13:g.94049916G>A , CM000669.1:g.94049916G>A | GRCh37 |
| NC_000007.12:g.93887852G>A | NCBI36 |
| NG_007405.1:g.31044G>A , LRG_2:g.31044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2251G>A MANE Select | ENSP00000297268.6:p.Gly751Ser | |
| ENST00000297268.10:c.2251G>A | ENSP00000297268.6:p.Gly751Ser | |
| ENST00000461525.5:n.340G>A | ||
| ENST00000467931.1:n.271G>A | ||
| ENST00000473573.5:n.588G>A | ||
| ENST00000497316.5:n.648G>A | ||
| ENST00000620463.1:c.2245G>A | ENSP00000477719.1:p.Gly749Ser | |
| NM_000089.3:c.2251G>A , LRG_2t1:c.2251G>A | NP_000080.2:p.Gly751Ser | |
| NM_000089.4:c.2251G>A MANE Select | NP_000080.2:p.Gly751Ser |