Revel Score:
ENST00000298910 (MANE Select)
0.098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363432C>G , CM000674.2:g.40363432C>G | GRCh38 |
| NC_000012.11:g.40757234C>G , CM000674.1:g.40757234C>G | GRCh37 |
| NC_000012.10:g.39043501C>G | NCBI36 |
| NG_011709.1:g.143422C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7059C>G MANE Select | ENSP00000298910.7:p.Asn2353Lys | |
| ENST00000636518.1:c.856C>G | ||
| ENST00000679360.1:c.*5968C>G | ENSP00000505368.1:n.*5968C>G | |
| ENST00000679532.1:c.2833C>G | ||
| ENST00000679683.1:c.849C>G | ||
| ENST00000680018.1:c.2504C>G | ENSP00000505347.1:n.2504C>G | |
| ENST00000680422.1:c.4146C>G | ||
| ENST00000680425.1:c.2226C>G | ENSP00000506459.1:n.2226C>G | |
| ENST00000680453.1:c.2516C>G | ||
| ENST00000680790.1:c.6804C>G | ENSP00000505335.1:p.Asn2268Lys | |
| ENST00000681136.1:n.3043C>G | ||
| ENST00000681696.1:c.2742C>G | ENSP00000505871.1:p.Asn914Lys | |
| ENST00000681773.1:n.266C>G | ||
| ENST00000298910.11:c.7059C>G | ENSP00000298910.7:p.Asn2353Lys | |
| ENST00000430804.5:c.4355C>G | ||
| ENST00000479187.5:n.3740C>G | ||
| NM_198578.3:c.7059C>G | NP_940980.3:p.Asn2353Lys | |
| XM_005268629.2:c.7059C>G | XP_005268686.1:p.Asn2353Lys | |
| XM_011537877.1:c.7059C>G | XP_011536179.1:p.Asn2353Lys | |
| XM_011537879.1:c.5856C>G | XP_011536181.1:p.Asn1952Lys | |
| XR_944868.1:n.485-8605G>C | ||
| XM_005268629.4:c.7059C>G | XP_005268686.1:p.Asn2353Lys | |
| XM_011537877.3:c.7059C>G | XP_011536179.1:p.Asn2353Lys | |
| XM_017018787.1:c.3975C>G | XP_016874276.1:p.Asn1325Lys | |
| XM_017018788.2:c.3321C>G | XP_016874277.1:p.Asn1107Lys | |
| XM_024448833.1:c.5856C>G | XP_024304601.1:p.Asn1952Lys | |
| XR_944868.2:n.485-8605G>C | ||
| NM_198578.4:c.7059C>G MANE Select | NP_940980.4:p.Asn2353Lys |