Revel Score:
ENST00000267622 (MANE Select)
0.146
ENST00000542257
0.146
ENST00000554357
0.111
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00140437 (AFR)
Genomes Max Group AF
0.00136753 (AFR)
Exomes Max Group AF
0.00124333 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91969726C>T , CM000676.2:g.91969726C>T | GRCh38 |
| NC_000014.8:g.92436070C>T , CM000676.1:g.92436070C>T | GRCh37 |
| NC_000014.7:g.91505823C>T | NCBI36 |
| NG_016970.1:g.75334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5887G>A MANE Select | ENSP00000267622.4:p.Ala1963Thr | |
| ENST00000554357.5:c.5033G>A | ||
| NM_004239.3:c.5887G>A | NP_004230.2:p.Ala1963Thr | |
| XM_005268214.2:c.4561G>A | XP_005268271.1:p.Ala1521Thr | |
| XM_005268215.2:c.2857G>A | XP_005268272.1:p.Ala953Thr | |
| XM_006720321.2:c.5884G>A | XP_006720384.1:p.Ala1962Thr | |
| NM_001321851.1:c.5884G>A | NP_001308780.1:p.Ala1962Thr | |
| NM_004239.4:c.5887G>A MANE Select | NP_004230.2:p.Ala1963Thr | |
| XM_017021787.2:c.5182G>A | XP_016877276.1:p.Ala1728Thr | |
| XM_017021788.2:c.4561G>A | XP_016877277.1:p.Ala1521Thr |