Revel Score:
ENST00000293328 (MANE Select)
0.509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42218168C>G , CM000679.2:g.42218168C>G | GRCh38 |
| NC_000017.10:g.40370186C>G , CM000679.1:g.40370186C>G | GRCh37 |
| NC_000017.9:g.37623712C>G | NCBI36 |
| NG_007271.1:g.63239G>C , LRG_192:g.63239G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415845.2:c.1152G>C | ENSP00000398379.2:p.Lys384Asn | |
| ENST00000698774.1:n.1326G>C | ||
| ENST00000698775.1:c.*1158G>C | ENSP00000513922.1:n.*1158G>C | |
| ENST00000698776.1:c.1152G>C | ENSP00000513923.1:p.Lys384Asn | |
| ENST00000698777.1:c.1152G>C | ENSP00000513924.1:p.Lys384Asn | |
| ENST00000698778.1:c.1152G>C | ENSP00000513925.1:p.Lys384Asn | |
| ENST00000698779.1:c.1152G>C | ENSP00000513926.1:p.Lys384Asn | |
| ENST00000698801.1:n.1028G>C | ||
| ENST00000698802.1:c.839G>C | ENSP00000513944.1:n.839G>C | |
| ENST00000698803.1:c.*902G>C | ENSP00000513945.1:n.*902G>C | |
| ENST00000698804.1:n.2885G>C | ||
| ENST00000698805.1:n.2495G>C | ||
| ENST00000698806.1:c.*866G>C | ENSP00000513946.1:n.*866G>C | |
| ENST00000698807.1:n.2528G>C | ||
| ENST00000698808.1:c.1149G>C | ENSP00000513947.1:p.Lys383Asn | |
| ENST00000698809.1:c.1152G>C | ENSP00000513948.1:p.Lys384Asn | |
| ENST00000698810.1:c.*902G>C | ENSP00000513949.1:n.*902G>C | |
| ENST00000698812.1:c.*1158G>C | ENSP00000513950.1:n.*1158G>C | |
| ENST00000698813.1:c.1152G>C | ENSP00000513951.1:p.Lys384Asn | |
| ENST00000698814.1:c.1152G>C | ENSP00000513952.1:p.Lys384Asn | |
| ENST00000698815.1:c.1152G>C | ENSP00000513953.1:p.Lys384Asn | |
| ENST00000698816.1:n.1240G>C | ||
| ENST00000293328.8:c.1152G>C MANE Select | ENSP00000293328.3:p.Lys384Asn | |
| ENST00000293328.7:c.1152G>C | ENSP00000293328.3:p.Lys384Asn | |
| ENST00000468312.1:n.1321G>C | ||
| NM_012448.3:c.1152G>C , LRG_192t1:c.1152G>C | NP_036580.2:p.Lys384Asn | |
| XM_005257625.2:c.870G>C | XP_005257682.1:p.Lys290Asn | |
| XM_005257626.3:c.1152G>C | XP_005257683.1:p.Lys384Asn | |
| XM_005257626.4:c.1152G>C | XP_005257683.1:p.Lys384Asn | |
| XM_017024977.1:c.870G>C | XP_016880466.1:p.Lys290Asn | |
| XM_024450897.1:c.1152G>C | XP_024306665.1:p.Lys384Asn | |
| XM_024450898.1:c.1152G>C | XP_024306666.1:p.Lys384Asn | |
| NM_012448.4:c.1152G>C MANE Select | NP_036580.2:p.Lys384Asn |