Revel Score:
ENST00000398178
0.615
ENST00000398161
0.615
ENST00000334268 (MANE Select)
0.615
ENST00000542014
0.615
ENST00000543022
0.615
ENST00000546248
0.615
ENST00000542443
0.615
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001567 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123570979G>A , CM000668.2:g.123570979G>A | GRCh38 |
| NC_000006.11:g.123892124G>A , CM000668.1:g.123892124G>A | GRCh37 |
| NC_000006.10:g.123933823G>A | NCBI36 |
| NG_030438.1:g.71115C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361029.9:c.-23C>T | ENSP00000354307.5:n.-23C>T | |
| ENST00000422596.2:c.-23C>T | ENSP00000406768.2:n.-23C>T | |
| ENST00000546248.6:c.176C>T | ENSP00000439281.2:p.Thr59Met | |
| ENST00000334268.9:c.176C>T MANE Select | ENSP00000333984.5:p.Thr59Met | |
| ENST00000662930.1:c.176C>T | ENSP00000499585.1:p.Thr59Met | |
| ENST00000334268.8:c.176C>T | ENSP00000333984.5:p.Thr59Met | |
| ENST00000542443.5:c.176C>T | ENSP00000437684.1:p.Thr59Met | |
| ENST00000546248.5:c.176C>T | ENSP00000439281.2:p.Thr59Met | |
| ENST00000628709.2:c.176C>T | ENSP00000486095.1:p.Thr59Met | |
| NM_001251987.1:c.176C>T | NP_001238916.1:p.Thr59Met | |
| NM_001256020.1:c.176C>T | NP_001242949.1:p.Thr59Met | |
| NM_001256021.1:c.176C>T | NP_001242950.1:p.Thr59Met | |
| NM_001256022.1:c.176C>T | NP_001242951.1:p.Thr59Met | |
| NM_006073.3:c.176C>T | NP_006064.2:p.Thr59Met | |
| XM_011535382.1:c.176C>T | XP_011533684.1:p.Thr59Met | |
| NM_006073.4:c.176C>T MANE Select | NP_006064.2:p.Thr59Met | |
| NM_001251987.2:c.176C>T | NP_001238916.1:p.Thr59Met | |
| NM_001256020.2:c.176C>T | NP_001242949.1:p.Thr59Met | |
| NM_001256021.2:c.176C>T | NP_001242950.1:p.Thr59Met | |
| NM_001256022.2:c.176C>T | NP_001242951.1:p.Thr59Met |