Revel Score:
ENST00000331782 (MANE Select)
0.169
ENST00000347004
0.169
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76582658 (AFR)
Genomes Max Group AF
0.7573893 (AFR)
Exomes Max Group AF
0.77173699 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105150705C>T , CM000676.2:g.105150705C>T | GRCh38 |
| NC_000014.8:g.105617042C>T , CM000676.1:g.105617042C>T | GRCh37 |
| NC_000014.7:g.104688087C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331782.8:c.1501G>A MANE Select | ENSP00000328169.3:p.Glu501Lys | |
| ENST00000331782.7:c.1501G>A | ENSP00000328169.3:p.Glu501Lys | |
| ENST00000347004.2:c.1387G>A | ENSP00000328566.2:p.Glu463Lys | |
| NM_002226.4:c.1501G>A | NP_002217.3:p.Glu501Lys | |
| NM_145159.2:c.1387G>A | NP_660142.1:p.Glu463Lys | |
| XM_011536736.1:c.1501G>A | XP_011535038.1:p.Glu501Lys | |
| XR_001750303.2:n.1562G>A | ||
| NM_002226.5:c.1501G>A MANE Select | NP_002217.3:p.Glu501Lys | |
| NM_145159.3:c.1387G>A | NP_660142.1:p.Glu463Lys |