Revel Score:
ENST00000450892 (MANE Select)
0.740
ENST00000299992
0.740
ENST00000541030
0.740
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001646 (NFE)
Exomes Max Group AF
0.00001663 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43603362C>G , CM000677.2:g.43603362C>G | GRCh38 |
| NC_000015.9:g.43895560C>G , CM000677.1:g.43895560C>G | GRCh37 |
| NC_000015.8:g.41682852C>G | NCBI36 |
| NG_011636.1:g.20439G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4425G>C (STRC) MANE Select | ENSP00000401513.2:p.Trp1475Cys | |
| ENST00000411560.1:n.143-1422C>G (CKMT1B) | ||
| ENST00000428650.5:c.*1578+634G>C (STRC) | ENSP00000415991.1:n.*1578+634G>C | |
| ENST00000440125.5:c.*2217G>C (STRC) | ENSP00000394866.1:n.*2217G>C | |
| ENST00000448437.6:n.1666-1811G>C (STRC) | ||
| ENST00000450892.6:c.4425G>C (STRC) | ENSP00000401513.2:p.Trp1475Cys | |
| ENST00000471703.5:n.2379G>C (STRC) | ||
| ENST00000485556.5:n.3280G>C (STRC) | ||
| ENST00000493750.1:n.221G>C (STRC) | ||
| ENST00000541030.5:c.2106G>C (STRC) | ENSP00000440413.1:p.Trp702Cys | |
| NM_153700.2:c.4425G>C (STRC) MANE Select | NP_714544.1:p.Trp1475Cys | |
| XM_011521277.1:c.4914G>C (STRC) | XP_011519579.1:p.Trp1638Cys | |
| XM_011521278.1:c.4530G>C (STRC) | XP_011519580.1:p.Trp1510Cys | |
| XM_011521279.1:c.4530G>C (STRC) | XP_011519581.1:p.Trp1510Cys |