Revel Score:
ENST00000453066 (MANE Select)
0.297
ENST00000324015
0.297
ENST00000450523
0.297
ENST00000423861
0.297
ENST00000453723
0.297
ENST00000382061
0.297
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1745208C>G , CM000679.2:g.1745208C>G | GRCh38 |
| NC_000017.10:g.1648502C>G , CM000679.1:g.1648502C>G | GRCh37 |
| NC_000017.9:g.1595252C>G | NCBI36 |
| NG_013215.1:g.7373C>G , LRG_885:g.7373C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382061.5:c.97C>G | ENSP00000371493.4:p.Arg33Gly | |
| ENST00000453066.6:c.97C>G MANE Select | ENSP00000402286.2:p.Arg33Gly | |
| ENST00000324015.7:c.97C>G | ENSP00000321853.3:p.Arg33Gly | |
| ENST00000382061.4:c.97C>G | ENSP00000371493.4:p.Arg33Gly | |
| ENST00000450523.6:c.97C>G | ENSP00000403877.2:p.Arg33Gly | |
| ENST00000453066.5:c.97C>G | ENSP00000402286.1:p.Arg33Gly | |
| ENST00000453723.5:c.97C>G | ENSP00000402056.1:p.Arg33Gly | |
| NM_000934.3:c.97C>G , LRG_885t1:c.97C>G | NP_000925.2:p.Arg33Gly | |
| NM_001165920.1:c.97C>G | NP_001159392.1:p.Arg33Gly | |
| NM_001165921.1:c.97C>G | NP_001159393.1:p.Arg33Gly | |
| XM_005256699.3:c.202C>G | XP_005256756.1:p.Arg68Gly | |
| XM_005256700.3:c.109C>G | XP_005256757.1:p.Arg37Gly | |
| XM_005256701.3:c.145C>G | XP_005256758.2:p.Arg49Gly | |
| XM_005256703.3:c.16C>G | XP_005256760.1:p.Arg6Gly | |
| XM_005256701.4:c.145C>G | XP_005256758.2:p.Arg49Gly | |
| XM_017024765.1:c.109C>G | XP_016880254.1:p.Arg37Gly | |
| XM_024450805.1:c.109C>G | XP_024306573.1:p.Arg37Gly | |
| NM_000934.4:c.97C>G MANE Select | NP_000925.2:p.Arg33Gly | |
| NM_001165921.2:c.97C>G | NP_001159393.1:p.Arg33Gly |