Revel Score:
ENST00000380079 (MANE Select)
0.107
ENST00000301959
0.107
ENST00000414498
0.107
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.88284046C>A , CM000669.2:g.88284046C>A | GRCh38 |
| NC_000007.13:g.87913361C>A , CM000669.1:g.87913361C>A | GRCh37 |
| NC_000007.12:g.87751297C>A | NCBI36 |
| NG_028313.1:g.27868G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380079.9:c.224G>T MANE Select | ENSP00000369419.4:p.Gly75Val | |
| ENST00000301959.9:c.224G>T | ENSP00000305545.5:p.Gly75Val | |
| ENST00000380079.8:c.224G>T | ENSP00000369419.4:p.Gly75Val | |
| ENST00000414498.1:c.224G>T | ENSP00000394399.1:p.Gly75Val | |
| NM_001205315.1:c.224G>T | NP_001192244.1:p.Gly75Val | |
| NM_001205316.1:c.224G>T | NP_001192245.1:p.Gly75Val | |
| NM_024636.3:c.224G>T | NP_078912.2:p.Gly75Val | |
| NM_001205315.2:c.224G>T | NP_001192244.1:p.Gly75Val | |
| NM_001205316.2:c.224G>T | NP_001192245.1:p.Gly75Val | |
| NM_024636.4:c.224G>T MANE Select | NP_078912.2:p.Gly75Val |