Revel Score:
ENST00000290573 (MANE Select)
0.940
ENST00000535740
0.940
ENST00000409174
0.940
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025404 (AFR)
Genomes Max Group AF
0.0001852 (AFR)
Exomes Max Group AF
0.00025248 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74854353C>T , CM000664.2:g.74854353C>T | GRCh38 |
| NC_000002.11:g.75081480C>T , CM000664.1:g.75081480C>T | GRCh37 |
| NC_000002.10:g.74934988C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290573.7:c.124C>T MANE Select | ENSP00000290573.2:p.Arg42Trp | |
| ENST00000290573.6:c.124C>T | ENSP00000290573.2:p.Arg42Trp | |
| ENST00000409174.1:c.40C>T | ENSP00000387140.1:p.Arg14Trp | |
| ENST00000472302.1:n.21C>T | ||
| NM_000189.4:c.124C>T | NP_000180.2:p.Arg42Trp | |
| XM_005264280.1:c.124C>T | XP_005264337.1:p.Arg42Trp | |
| XM_011532807.1:c.124C>T | XP_011531109.1:p.Arg42Trp | |
| XM_005264280.2:c.124C>T | XP_005264337.1:p.Arg42Trp | |
| XM_011532807.2:c.124C>T | XP_011531109.1:p.Arg42Trp | |
| XM_017003945.2:c.124C>T | XP_016859434.1:p.Arg42Trp | |
| NM_000189.5:c.124C>T MANE Select | NP_000180.2:p.Arg42Trp | |
| NM_001371525.1:c.40C>T | NP_001358454.1:p.Arg14Trp |