Revel Score:
ENST00000298139 (MANE Select)
0.377
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31064934A>C , CM000670.2:g.31064934A>C | GRCh38 |
| NC_000008.10:g.30922450A>C , CM000670.1:g.30922450A>C | GRCh37 |
| NC_000008.9:g.31041992A>C | NCBI36 |
| NG_008870.1:g.36673A>C , LRG_524:g.36673A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.375A>C MANE Select | ENSP00000298139.5:p.Lys125Asn | |
| ENST00000650667.1:c.229A>C | ENSP00000498593.1:p.Asn77His | |
| ENST00000298139.5:c.375A>C | ENSP00000298139.5:p.Lys125Asn | |
| NM_000553.4:c.375A>C , LRG_524t1:c.375A>C | NP_000544.2:p.Lys125Asn | |
| XM_011544639.1:c.375A>C | XP_011542941.1:p.Lys125Asn | |
| XR_949470.1:n.648A>C | ||
| XR_949471.1:n.648A>C | ||
| XR_949472.1:n.648A>C | ||
| NM_000553.5:c.375A>C | NP_000544.2:p.Lys125Asn | |
| XM_011544639.3:c.375A>C | XP_011542941.1:p.Lys125Asn | |
| XM_024447265.1:c.165A>C | XP_024303033.1:p.Lys55Asn | |
| XR_949470.3:n.676A>C | ||
| XR_949471.3:n.676A>C | ||
| XR_949472.3:n.676A>C | ||
| NM_000553.6:c.375A>C MANE Select | NP_000544.2:p.Lys125Asn |