Revel Score:
ENST00000253408
0.963
ENST00000421021
0.963
ENST00000435360
0.963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44911287A>G , CM000679.2:g.44911287A>G | GRCh38 |
| NC_000017.10:g.42988655A>G , CM000679.1:g.42988655A>G | GRCh37 |
| NC_000017.9:g.40344181A>G | NCBI36 |
| NG_008401.1:g.9260T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1076T>C | ENSP00000253408.5:p.Leu359Pro | |
| ENST00000435360.8:c.1076T>C | ENSP00000403962.1:p.Leu359Pro | |
| ENST00000253408.10:c.1076T>C | ENSP00000253408.5:p.Leu359Pro | |
| ENST00000435360.7:c.1076T>C | ENSP00000403962.1:p.Leu359Pro | |
| ENST00000585543.6:n.229T>C | ||
| ENST00000586125.2:c.11T>C | ENSP00000467397.2:p.Leu4Pro | |
| ENST00000586127.6:n.1605T>C | ||
| ENST00000586793.6:c.941T>C | ENSP00000468500.2:p.Leu314Pro | |
| ENST00000587997.6:n.552T>C | ||
| ENST00000588735.3:c.1076T>C MANE Select | ENSP00000466598.2:p.Leu359Pro | |
| ENST00000591327.2:n.2230T>C | ||
| ENST00000591880.2:c.6T>C | ||
| ENST00000592320.6:c.653T>C | ENSP00000465320.1:p.Leu218Pro | |
| ENST00000638281.1:c.1076T>C | ENSP00000491088.1:p.Leu359Pro | |
| ENST00000638488.1:n.17T>C | ||
| ENST00000638618.1:c.731T>C | ENSP00000492832.1:p.Leu244Pro | |
| ENST00000639042.1:c.13T>C | ||
| ENST00000639277.1:c.1076T>C | ENSP00000492432.1:p.Leu359Pro | |
| ENST00000639921.1:c.33T>C | ||
| ENST00000640552.1:n.1090T>C | ||
| ENST00000253408.9:c.1076T>C | ENSP00000253408.4:p.Leu359Pro | |
| ENST00000435360.6:c.1076T>C | ENSP00000403962.1:p.Leu359Pro | |
| ENST00000585543.5:n.229T>C | ||
| ENST00000586793.5:c.1076T>C | ENSP00000468500.1:p.Leu359Pro | |
| ENST00000587997.5:c.552T>C | ||
| ENST00000588640.5:n.456T>C | ||
| ENST00000588735.1:c.83-3171T>C | ENSP00000466598.1:n.83-3171T>C | |
| ENST00000592320.5:c.653T>C | ENSP00000465320.1:p.Leu218Pro | |
| NM_001131019.2:c.1076T>C | NP_001124491.1:p.Leu359Pro | |
| NM_001242376.1:c.1076T>C | NP_001229305.1:p.Leu359Pro | |
| NM_002055.4:c.1076T>C | NP_002046.1:p.Leu359Pro | |
| NM_001363846.1:c.1076T>C | NP_001350775.1:p.Leu359Pro | |
| XM_024450690.1:c.1280T>C | XP_024306458.1:p.Leu427Pro | |
| XM_024450691.1:c.1280T>C | XP_024306459.1:p.Leu427Pro | |
| XM_024450692.1:c.1280T>C | XP_024306460.1:p.Leu427Pro | |
| XM_024450693.1:c.1280T>C | XP_024306461.1:p.Leu427Pro | |
| NM_002055.5:c.1076T>C MANE Select | NP_002046.1:p.Leu359Pro | |
| NM_001131019.3:c.1076T>C | NP_001124491.1:p.Leu359Pro | |
| NM_001242376.2:c.1076T>C | NP_001229305.1:p.Leu359Pro | |
| NM_001242376.3:c.1076T>C | NP_001229305.1:p.Leu359Pro | |
| NM_001363846.2:c.1076T>C | NP_001350775.1:p.Leu359Pro |