Revel Score:
ENST00000306077 (MANE Select)
0.051
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141751A>C , CM000665.2:g.14141751A>C | GRCh38 |
| NC_000003.11:g.14183251A>C , CM000665.1:g.14183251A>C | GRCh37 |
| NC_000003.10:g.14158252A>C | NCBI36 |
| NG_008975.1:g.21812A>C , LRG_435:g.21812A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1189A>C | ENSP00000395617.1:n.*1189A>C | |
| ENST00000306077.5:c.1159A>C MANE Select | ENSP00000303992.5:p.Ile387Leu | |
| ENST00000306077.4:c.1159A>C | ENSP00000303992.4:p.Ile387Leu | |
| ENST00000601399.3:n.327+2454A>C | ||
| ENST00000608606.1:c.236+2454A>C | ||
| ENST00000626721.1:n.24A>C | ||
| NM_024334.2:c.1159A>C , LRG_435t1:c.1159A>C | NP_077310.1:p.Ile387Leu | |
| XM_011534109.1:c.1054A>C | XP_011532411.1:p.Ile352Leu | |
| XM_017007176.2:c.1054A>C | XP_016862665.1:p.Ile352Leu | |
| NM_024334.3:c.1159A>C MANE Select | NP_077310.1:p.Ile387Leu |