Revel Score:
ENST00000441551
0.444
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001577 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001335 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46639685T>A , CM000680.2:g.46639685T>A | GRCh38 |
| NC_000018.9:g.44219648T>A , CM000680.1:g.44219648T>A | GRCh37 |
| NC_000018.8:g.42473646T>A | NCBI36 |
| NG_016646.1:g.22349A>T | |
| NG_016646.2:g.22349A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642948.1:c.442A>T MANE Select | ENSP00000496347.1:p.Lys148Ter | |
| ENST00000441551.6:c.442A>T | ENSP00000387621.2:p.Lys148Ter | |
| ENST00000536736.5:c.442A>T | ENSP00000444586.1:p.Lys148Ter | |
| NM_144612.6:c.442A>T | NP_653213.6:p.Lys148Ter | |
| XM_011525803.1:c.442A>T | XP_011524105.1:p.Lys148Ter | |
| XM_017025548.1:c.442A>T | XP_016881037.1:p.Lys148Ter | |
| NM_001384474.1:c.442A>T MANE Select | NP_001371403.1:p.Lys148Ter | |
| NM_144612.7:c.442A>T | NP_653213.6:p.Lys148Ter |