Revel Score:
ENST00000304636 (MANE Select)
0.999
ENST00000317840
0.999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189008952G>T , CM000664.2:g.189008952G>T | GRCh38 |
| NC_000002.11:g.189873678G>T , CM000664.1:g.189873678G>T | GRCh37 |
| NC_000002.10:g.189581923G>T | NCBI36 |
| NG_007404.1:g.39580G>T , LRG_3:g.39580G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3455G>T | ENSP00000415346.2:p.Gly1152Val | |
| ENST00000304636.9:c.3554G>T MANE Select | ENSP00000304408.4:p.Gly1185Val | |
| ENST00000304636.7:c.3554G>T | ENSP00000304408.3:p.Gly1185Val | |
| ENST00000317840.9:c.2645G>T | ENSP00000315243.6:p.Gly882Val | |
| ENST00000487010.1:n.651G>T | ||
| NM_000090.3:c.3554G>T , LRG_3t1:c.3554G>T | NP_000081.1:p.Gly1185Val | |
| NM_000090.4:c.3554G>T MANE Select | NP_000081.2:p.Gly1185Val |