Revel Score:
ENST00000301015 (MANE Select)
0.388
ENST00000474606
0.300
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003963 (SAS)
Exomes Max Group AF
0.00003408 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88725505C>T , CM000678.2:g.88725505C>T | GRCh38 |
| NC_000016.9:g.88791913C>T , CM000678.1:g.88791913C>T | GRCh37 |
| NC_000016.8:g.87319414C>T | NCBI36 |
| NG_042229.1:g.64716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.4073G>A MANE Select | ENSP00000301015.9:p.Arg1358His | |
| ENST00000301015.13:c.4073G>A | ENSP00000301015.9:p.Arg1358His | |
| ENST00000474606.1:c.166G>A | ||
| ENST00000475586.1:n.446G>A | ||
| NM_001142864.2:c.4073G>A | NP_001136336.2:p.Arg1358His | |
| NM_001142864.3:c.4073G>A | NP_001136336.2:p.Arg1358His | |
| NM_001142864.4:c.4073G>A MANE Select | NP_001136336.2:p.Arg1358His |