Revel Score:
ENST00000340855 (MANE Select)
0.952
ENST00000537071
0.952
ENST00000541269
0.952
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482996C>T , CM000685.2:g.149482996C>T | GRCh38 |
| NC_000023.10:g.148564527C>T , CM000685.1:g.148564527C>T | GRCh37 |
| NC_000023.9:g.148372432C>T | NCBI36 |
| NG_011900.3:g.27339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1403G>A MANE Select | ENSP00000339801.6:p.Arg468Gln | |
| ENST00000651111.1:c.770G>A | ENSP00000498395.1:p.Arg257Gln | |
| ENST00000340855.10:c.1403G>A | ENSP00000339801.6:p.Arg468Gln | |
| ENST00000422081.6:c.770G>A | ENSP00000477056.1:p.Arg257Gln | |
| NM_000202.6:c.1403G>A | NP_000193.1:p.Arg468Gln | |
| NM_001166550.2:c.1133G>A | NP_001160022.1:p.Arg378Gln | |
| NM_000202.7:c.1403G>A | NP_000193.1:p.Arg468Gln | |
| NM_001166550.3:c.1133G>A | NP_001160022.1:p.Arg378Gln | |
| NM_000202.8:c.1403G>A MANE Select | NP_000193.1:p.Arg468Gln | |
| NM_001166550.4:c.1133G>A | NP_001160022.1:p.Arg378Gln |