Revel Score:
ENST00000262186 (MANE Select)
0.934
ENST00000430723
0.934
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974861C>G , CM000669.2:g.150974861C>G | GRCh38 |
| NC_000007.13:g.150671949C>G , CM000669.1:g.150671949C>G | GRCh37 |
| NC_000007.12:g.150302882C>G | NCBI36 |
| NG_008916.1:g.8066G>C , LRG_288:g.8066G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.157G>C MANE Select | ENSP00000262186.5:p.Gly53Arg | |
| ENST00000262186.9:c.157G>C | ENSP00000262186.5:p.Gly53Arg | |
| ENST00000430723.4:c.-21G>C | ENSP00000387657.4:n.-21G>C | |
| ENST00000532957.5:n.380G>C | ||
| NM_000238.3:c.157G>C , LRG_288t1:c.157G>C | NP_000229.1:p.Gly53Arg | |
| NM_172056.2:c.157G>C , LRG_288t2:c.157G>C | NP_742053.1:p.Gly53Arg | |
| XM_011516186.1:c.157G>C | XP_011514488.1:p.Gly53Arg | |
| XM_011516186.3:c.157G>C | XP_011514488.1:p.Gly53Arg | |
| XM_017012196.1:c.-21G>C | XP_016867685.1:n.-21G>C | |
| NM_000238.4:c.157G>C MANE Select | NP_000229.1:p.Gly53Arg |