MyVariant.info:
GRCh37
chr8:g.103244460G>T
Revel Score:
ENST00000522368
0.606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102232232G>T , CM000670.2:g.102232232G>T | GRCh38 |
| NC_000008.10:g.103244460G>T , CM000670.1:g.103244460G>T | GRCh37 |
| NC_000008.9:g.103313636G>T | NCBI36 |
| NG_016617.1:g.11887C>A , LRG_788:g.11887C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.121C>A MANE Select | ENSP00000251810.3:p.Arg41= | |
| ENST00000251810.7:c.121C>A | ENSP00000251810.3:p.Arg41= | |
| ENST00000395912.6:c.49-6198C>A | ENSP00000379248.2:n.49-6198C>A | |
| ENST00000517517.1:n.430C>A | ||
| ENST00000519317.5:c.48+6595C>A | ENSP00000430641.1:n.48+6595C>A | |
| ENST00000519962.5:c.48+6595C>A | ENSP00000429140.1:n.48+6595C>A | |
| ENST00000522368.5:c.290C>A | ||
| ENST00000522394.1:c.121C>A | ENSP00000429578.1:p.Arg41= | |
| ENST00000523957.1:c.*44C>A | ENSP00000427830.1:n.*44C>A | |
| ENST00000621845.1:c.-42C>A | ENSP00000484318.1:n.-42C>A | |
| NM_001172477.1:c.337C>A , LRG_788t1:c.337C>A | NP_001165948.1:p.Arg113= | |
| NM_001172478.1:c.49-6198C>A | NP_001165949.1:n.49-6198C>A | |
| NM_015713.4:c.121C>A , LRG_788t2:c.121C>A | NP_056528.2:p.Arg41= | |
| NM_001172478.2:c.49-6198C>A | NP_001165949.1:n.49-6198C>A | |
| NM_015713.5:c.121C>A MANE Select | NP_056528.2:p.Arg41= |