Revel Score:
ENST00000320574 (MANE Select)
0.076
ENST00000455752
0.076
ENST00000535270
0.076
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Exomes Max Group AF
0.00001627 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132641689G>A , CM000674.2:g.132641689G>A | GRCh38 |
| NC_000012.11:g.133218275G>A , CM000674.1:g.133218275G>A | GRCh37 |
| NC_000012.10:g.131728348G>A | NCBI36 |
| NG_033840.1:g.50836C>T , LRG_789:g.50836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416953.3:n.2877C>T | ||
| ENST00000434528.5:c.245C>T | ENSP00000500921.1:p.Pro82Leu | |
| ENST00000544870.6:c.3009C>T | ENSP00000479927.2:n.3009C>T | |
| ENST00000699981.1:n.2990C>T | ||
| ENST00000699982.1:c.5190C>T | ||
| ENST00000699983.1:c.5894C>T | ||
| ENST00000699984.1:c.5190C>T | ||
| ENST00000320574.10:c.5336C>T MANE Select | ENSP00000322570.5:p.Pro1779Leu | |
| ENST00000434528.4:c.245C>T | ENSP00000500921.1:p.Pro82Leu | |
| ENST00000672002.1:c.3009C>T | ENSP00000500233.1:n.3009C>T | |
| ENST00000672742.1:c.*5542C>T | ENSP00000500279.1:n.*5542C>T | |
| ENST00000320574.9:c.5336C>T | ENSP00000322570.5:p.Pro1779Leu | |
| ENST00000535270.5:c.5255C>T | ENSP00000445753.1:p.Pro1752Leu | |
| ENST00000537064.5:c.*5087C>T | ENSP00000442578.1:n.*5087C>T | |
| ENST00000542362.1:n.193C>T | ||
| NM_006231.3:c.5336C>T , LRG_789t1:c.5336C>T | NP_006222.2:p.Pro1779Leu | |
| XM_011534795.1:c.5336C>T | XP_011533097.1:p.Pro1779Leu | |
| XM_011534796.1:c.5207C>T | XP_011533098.1:p.Pro1736Leu | |
| XM_011534797.1:c.4415C>T | XP_011533099.1:p.Pro1472Leu | |
| XM_011534798.1:c.3998C>T | XP_011533100.1:p.Pro1333Leu | |
| XM_011534799.1:c.5336C>T | XP_011533101.1:p.Pro1779Leu | |
| XM_011534800.1:c.5336C>T | XP_011533102.1:p.Pro1779Leu | |
| XM_011534802.1:c.2324C>T | XP_011533104.1:p.Pro775Leu | |
| XM_011534795.3:c.5336C>T | XP_011533097.1:p.Pro1779Leu | |
| XM_011534797.3:c.4415C>T | XP_011533099.1:p.Pro1472Leu | |
| XM_011534799.2:c.5336C>T | XP_011533101.1:p.Pro1779Leu | |
| XM_011534802.3:c.2324C>T | XP_011533104.1:p.Pro775Leu | |
| XR_002957338.1:n.5540C>T | ||
| XR_002957339.1:n.5540C>T | ||
| XR_941395.2:n.5589C>T | ||
| NM_006231.4:c.5336C>T MANE Select | NP_006222.2:p.Pro1779Leu |