Revel Score:
ENST00000360971
0.666
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877005G>C , CM000668.2:g.131877005G>C | GRCh38 |
| NC_000006.11:g.132198145G>C , CM000668.1:g.132198145G>C | GRCh37 |
| NC_000006.10:g.132239838G>C | NCBI36 |
| NG_008206.1:g.73990G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.609G>C | ||
| ENST00000684536.1:n.235G>C | ||
| ENST00000647893.1:c.1737G>C MANE Select | ENSP00000498074.1:p.Leu579Phe | |
| ENST00000647981.1:n.422G>C | ||
| ENST00000650437.1:c.1228G>C | ||
| ENST00000360971.6:c.1737G>C | ENSP00000354238.2:p.Leu579Phe | |
| ENST00000459624.1:n.781G>C | ||
| ENST00000513998.5:c.*574G>C | ENSP00000422424.1:n.*574G>C | |
| NM_006208.2:c.1737G>C | NP_006199.2:p.Leu579Phe | |
| XM_011535896.1:c.627G>C | XP_011534198.1:p.Leu209Phe | |
| NM_006208.3:c.1737G>C MANE Select | NP_006199.2:p.Leu579Phe |