Revel Score:
ENST00000394817 (MANE Select)
0.221
ENST00000265195
0.221
ENST00000509534
0.221
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00213727 (AFR)
Genomes Max Group AF
0.00200175 (AFR)
Exomes Max Group AF
0.00204907 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947464C>T , CM000667.2:g.138947464C>T | GRCh38 |
| NC_000005.9:g.138283153C>T , CM000667.1:g.138283153C>T | GRCh37 |
| NC_000005.8:g.138311052C>T | NCBI36 |
| NG_008112.1:g.255913G>A | |
| NG_008112.2:g.255913G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1039G>A MANE Select | ENSP00000378294.2:p.Glu347Lys | |
| ENST00000265195.9:c.1039G>A | ENSP00000265195.5:p.Glu347Lys | |
| ENST00000394817.6:c.1039G>A | ENSP00000378294.2:p.Glu347Lys | |
| ENST00000509534.5:c.1060G>A | ENSP00000426858.1:p.Glu354Lys | |
| ENST00000515008.1:n.374G>A | ||
| NM_001037633.1:c.1039G>A | NP_001032722.1:p.Glu347Lys | |
| NM_022464.4:c.1039G>A | NP_071909.1:p.Glu347Lys | |
| XM_011543570.1:c.1069G>A | XP_011541872.1:p.Glu357Lys | |
| XM_011543570.2:c.1069G>A | XP_011541872.1:p.Glu357Lys | |
| XM_024446164.1:c.1039G>A | XP_024301932.1:p.Glu347Lys | |
| NM_022464.5:c.1039G>A MANE Select | NP_071909.1:p.Glu347Lys | |
| NM_001037633.2:c.1039G>A | NP_001032722.1:p.Glu347Lys |