Revel Score:
ENST00000442544 (MANE Select)
0.120
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53526629C>T , CM000680.2:g.53526629C>T | GRCh38 |
| NC_000018.9:g.51052999C>T , CM000680.1:g.51052999C>T | GRCh37 |
| NC_000018.8:g.49306997C>T | NCBI36 |
| NG_013341.1:g.1191458C>T | |
| NG_013341.2:g.1191458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.4124C>T MANE Select | ENSP00000389140.2:p.Pro1375Leu | |
| ENST00000412726.5:c.4055C>T | ENSP00000397322.2:p.Pro1352Leu | |
| ENST00000442544.6:c.4124C>T | ENSP00000389140.2:p.Pro1375Leu | |
| ENST00000579702.1:n.209C>T | ||
| ENST00000581580.5:c.3023C>T | ENSP00000464582.1:p.Pro1008Leu | |
| NM_005215.3:c.4124C>T | NP_005206.2:p.Pro1375Leu | |
| XM_011525843.1:c.4124C>T | XP_011524145.1:p.Pro1375Leu | |
| XM_011525844.1:c.3089C>T | XP_011524146.1:p.Pro1030Leu | |
| XM_011525844.2:c.3089C>T | XP_011524146.1:p.Pro1030Leu | |
| XM_017025568.1:c.4118C>T | XP_016881057.1:p.Pro1373Leu | |
| XM_017025569.1:c.4064C>T | XP_016881058.1:p.Pro1355Leu | |
| XM_017025570.1:c.3089C>T | XP_016881059.1:p.Pro1030Leu | |
| NM_005215.4:c.4124C>T MANE Select | NP_005206.2:p.Pro1375Leu |