Revel Score:
ENST00000375715
0.556
ENST00000375708 (MANE Select)
0.556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726596A>C , CM000671.2:g.91726596A>C | GRCh38 |
| NC_000009.11:g.94488878A>C , CM000671.1:g.94488878A>C | GRCh37 |
| NC_000009.10:g.93528699A>C | NCBI36 |
| NG_008089.1:g.228567T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1331T>G MANE Select | ENSP00000364860.3:p.Leu444Arg | |
| ENST00000375708.3:c.1331T>G | ENSP00000364860.3:p.Leu444Arg | |
| ENST00000375715.5:c.911T>G | ENSP00000364867.1:p.Leu304Arg | |
| ENST00000550066.5:n.1799T>G | ||
| NM_004560.3:c.1331T>G | NP_004551.2:p.Leu444Arg | |
| XM_005252008.3:c.911T>G | XP_005252065.1:p.Leu304Arg | |
| XM_005252009.3:c.128T>G | XP_005252066.1:p.Leu43Arg | |
| XM_006717121.2:c.911T>G | XP_006717184.1:p.Leu304Arg | |
| XM_011518721.1:c.911T>G | XP_011517023.1:p.Leu304Arg | |
| NM_001318204.1:c.1297T>G | NP_001305133.1:p.Ter433Gly | |
| XM_005252008.4:c.911T>G | XP_005252065.1:p.Leu304Arg | |
| XM_006717121.3:c.911T>G | XP_006717184.1:p.Leu304Arg | |
| XM_017014762.1:c.1322T>G | XP_016870251.1:p.Leu441Arg | |
| XM_017014763.1:c.911T>G | XP_016870252.1:p.Leu304Arg | |
| XR_001746315.1:n.1540T>G | ||
| NM_004560.4:c.1331T>G MANE Select | NP_004551.2:p.Leu444Arg | |
| NM_001318204.2:c.1297T>G | NP_001305133.1:p.Ter433Gly |