Revel Score:
ENST00000375715
0.444
ENST00000375708 (MANE Select)
0.444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726602C>A , CM000671.2:g.91726602C>A | GRCh38 |
| NC_000009.11:g.94488884C>A , CM000671.1:g.94488884C>A | GRCh37 |
| NC_000009.10:g.93528705C>A | NCBI36 |
| NG_008089.1:g.228561G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1325G>T MANE Select | ENSP00000364860.3:p.Arg442Leu | |
| ENST00000375708.3:c.1325G>T | ENSP00000364860.3:p.Arg442Leu | |
| ENST00000375715.5:c.905G>T | ENSP00000364867.1:p.Arg302Leu | |
| ENST00000550066.5:n.1793G>T | ||
| NM_004560.3:c.1325G>T | NP_004551.2:p.Arg442Leu | |
| XM_005252008.3:c.905G>T | XP_005252065.1:p.Arg302Leu | |
| XM_005252009.3:c.122G>T | XP_005252066.1:p.Arg41Leu | |
| XM_006717121.2:c.905G>T | XP_006717184.1:p.Arg302Leu | |
| XM_011518721.1:c.905G>T | XP_011517023.1:p.Arg302Leu | |
| NM_001318204.1:c.1291G>T | NP_001305133.1:p.Asp431Tyr | |
| XM_005252008.4:c.905G>T | XP_005252065.1:p.Arg302Leu | |
| XM_006717121.3:c.905G>T | XP_006717184.1:p.Arg302Leu | |
| XM_017014762.1:c.1316G>T | XP_016870251.1:p.Arg439Leu | |
| XM_017014763.1:c.905G>T | XP_016870252.1:p.Arg302Leu | |
| XR_001746315.1:n.1534G>T | ||
| NM_004560.4:c.1325G>T MANE Select | NP_004551.2:p.Arg442Leu | |
| NM_001318204.2:c.1291G>T | NP_001305133.1:p.Asp431Tyr |