Revel Score:
ENST00000361445 (MANE Select)
0.761
ENST00000376838
0.761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11122122G>T , CM000663.2:g.11122122G>T | GRCh38 |
| NC_000001.10:g.11182179G>T , CM000663.1:g.11182179G>T | GRCh37 |
| NC_000001.9:g.11104766G>T | NCBI36 |
| NG_033239.1:g.145430C>A , LRG_734:g.145430C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*2042C>A | ENSP00000515181.1:n.*2042C>A | |
| ENST00000703131.1:n.2668C>A | ||
| ENST00000703139.1:c.1304C>A | ||
| ENST00000703140.1:c.6454C>A | ENSP00000515197.1:p.Gln2152Lys | |
| ENST00000703141.1:c.*2184C>A | ENSP00000515198.1:n.*2184C>A | |
| ENST00000703142.1:c.*3497C>A | ENSP00000515199.1:n.*3497C>A | |
| ENST00000361445.9:c.6667C>A MANE Select | ENSP00000354558.4:p.Gln2223Lys | |
| ENST00000361445.8:c.6667C>A | ENSP00000354558.4:p.Gln2223Lys | |
| ENST00000376838.5:c.1282C>A | ENSP00000366034.1:p.Gln428Lys | |
| NM_004958.3:c.6667C>A , LRG_734t1:c.6667C>A | NP_004949.1:p.Gln2223Lys | |
| XM_005263438.1:c.6667C>A | XP_005263495.1:p.Gln2223Lys | |
| XR_244786.1:n.6788C>A | ||
| XM_005263438.2:c.6667C>A | XP_005263495.1:p.Gln2223Lys | |
| XM_017000900.1:c.5986C>A | XP_016856389.1:p.Gln1996Lys | |
| XM_017000901.1:c.5419C>A | XP_016856390.1:p.Gln1807Lys | |
| XM_024446187.1:c.6667C>A | XP_024301955.1:p.Gln2223Lys | |
| XR_001737087.1:n.6788C>A | ||
| NM_004958.4:c.6667C>A MANE Select | NP_004949.1:p.Gln2223Lys | |
| NM_001386500.1:c.6667C>A | NP_001373429.1:p.Gln2223Lys | |
| NM_001386501.1:c.5419C>A | NP_001373430.1:p.Gln1807Lys |