Revel Score:
ENST00000298139 (MANE Select)
0.075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31167139G>C , CM000670.2:g.31167139G>C | GRCh38 |
| NC_000008.10:g.31024655G>C , CM000670.1:g.31024655G>C | GRCh37 |
| NC_000008.9:g.31144197G>C | NCBI36 |
| NG_008870.1:g.138878G>C , LRG_524:g.138878G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.4100G>C MANE Select | ENSP00000298139.5:p.Cys1367Ser | |
| ENST00000650667.1:c.*3714G>C | ENSP00000498593.1:n.*3714G>C | |
| ENST00000651946.1:n.324G>C | ||
| ENST00000298139.5:c.4100G>C | ENSP00000298139.5:p.Cys1367Ser | |
| ENST00000521620.5:n.2733G>C | ||
| NM_000553.4:c.4100G>C , LRG_524t1:c.4100G>C | NP_000544.2:p.Cys1367Ser | |
| XM_011544639.1:c.4019G>C | XP_011542941.1:p.Cys1340Ser | |
| XM_011544640.1:c.2501G>C | XP_011542942.1:p.Cys834Ser | |
| XR_949643.1:n.319C>G | ||
| XR_949644.1:n.319C>G | ||
| XR_949645.1:n.319C>G | ||
| XR_949646.1:n.319C>G | ||
| XR_949647.1:n.932C>G | ||
| XR_949648.1:n.834C>G | ||
| NM_000553.5:c.4100G>C | NP_000544.2:p.Cys1367Ser | |
| XM_011544639.3:c.4019G>C | XP_011542941.1:p.Cys1340Ser | |
| XM_024447265.1:c.3890G>C | XP_024303033.1:p.Cys1297Ser | |
| NM_000553.6:c.4100G>C MANE Select | NP_000544.2:p.Cys1367Ser |