Revel Score:
ENST00000251810 (MANE Select)
0.973
ENST00000535248
0.973
ENST00000395912
0.973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218917T>C , CM000670.2:g.102218917T>C | GRCh38 |
| NC_000008.10:g.103231145T>C , CM000670.1:g.103231145T>C | GRCh37 |
| NC_000008.9:g.103300321T>C | NCBI36 |
| NG_016617.1:g.25202A>G , LRG_788:g.25202A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.581A>G MANE Select | ENSP00000251810.3:p.Glu194Gly | |
| ENST00000251810.7:c.581A>G | ENSP00000251810.3:p.Glu194Gly | |
| ENST00000395912.6:c.425A>G | ENSP00000379248.2:p.Glu142Gly | |
| ENST00000519125.1:n.99A>G | ||
| ENST00000519317.5:c.49-4759A>G | ENSP00000430641.1:n.49-4759A>G | |
| ENST00000519962.5:c.49-10632A>G | ENSP00000429140.1:n.49-10632A>G | |
| ENST00000522368.5:c.750A>G | ||
| ENST00000522394.1:c.123-6028A>G | ENSP00000429578.1:n.123-6028A>G | |
| ENST00000621845.1:c.419A>G | ENSP00000484318.1:p.Glu140Gly | |
| NM_001172477.1:c.797A>G , LRG_788t1:c.797A>G | NP_001165948.1:p.Glu266Gly | |
| NM_001172478.1:c.425A>G | NP_001165949.1:p.Glu142Gly | |
| NM_015713.4:c.581A>G , LRG_788t2:c.581A>G | NP_056528.2:p.Glu194Gly | |
| NM_001172478.2:c.425A>G | NP_001165949.1:p.Glu142Gly | |
| NM_015713.5:c.581A>G MANE Select | NP_056528.2:p.Glu194Gly |