Revel Score:
ENST00000375715
0.436
ENST00000375708 (MANE Select)
0.436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726605C>A , CM000671.2:g.91726605C>A | GRCh38 |
| NC_000009.11:g.94488887C>A , CM000671.1:g.94488887C>A | GRCh37 |
| NC_000009.10:g.93528708C>A | NCBI36 |
| NG_008089.1:g.228558G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1322G>T MANE Select | ENSP00000364860.3:p.Arg441Leu | |
| ENST00000375708.3:c.1322G>T | ENSP00000364860.3:p.Arg441Leu | |
| ENST00000375715.5:c.902G>T | ENSP00000364867.1:p.Arg301Leu | |
| ENST00000550066.5:n.1790G>T | ||
| NM_004560.3:c.1322G>T | NP_004551.2:p.Arg441Leu | |
| XM_005252008.3:c.902G>T | XP_005252065.1:p.Arg301Leu | |
| XM_005252009.3:c.119G>T | XP_005252066.1:p.Arg40Leu | |
| XM_006717121.2:c.902G>T | XP_006717184.1:p.Arg301Leu | |
| XM_011518721.1:c.902G>T | XP_011517023.1:p.Arg301Leu | |
| NM_001318204.1:c.1288G>T | NP_001305133.1:p.Gly430Cys | |
| XM_005252008.4:c.902G>T | XP_005252065.1:p.Arg301Leu | |
| XM_006717121.3:c.902G>T | XP_006717184.1:p.Arg301Leu | |
| XM_017014762.1:c.1313G>T | XP_016870251.1:p.Arg438Leu | |
| XM_017014763.1:c.902G>T | XP_016870252.1:p.Arg301Leu | |
| XR_001746315.1:n.1531G>T | ||
| NM_004560.4:c.1322G>T MANE Select | NP_004551.2:p.Arg441Leu | |
| NM_001318204.2:c.1288G>T | NP_001305133.1:p.Gly430Cys |