Revel Score:
ENST00000305883 (MANE Select)
0.036
ENST00000540845
0.036
ENST00000535335
0.036
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10047996C>G , CM000664.2:g.10047996C>G | GRCh38 |
| NC_000002.11:g.10188123C>G , CM000664.1:g.10188123C>G | GRCh37 |
| NC_000002.10:g.10105574C>G | NCBI36 |
| NG_017199.1:g.9442C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.659C>G MANE Select | ENSP00000307023.1:p.Thr220Arg | |
| ENST00000305883.5:c.659C>G | ENSP00000307023.1:p.Thr220Arg | |
| ENST00000535335.1:c.608C>G | ENSP00000442722.1:p.Thr203Arg | |
| ENST00000540845.5:c.608C>G | ENSP00000444690.1:p.Thr203Arg | |
| NM_001177716.1:c.608C>G | NP_001171187.1:p.Thr203Arg | |
| NM_001177718.1:c.608C>G | NP_001171189.1:p.Thr203Arg | |
| NM_003597.4:c.659C>G | NP_003588.1:p.Thr220Arg | |
| XM_005246179.3:c.608C>G | XP_005246236.1:p.Thr203Arg | |
| NM_003597.5:c.659C>G MANE Select | NP_003588.1:p.Thr220Arg | |
| NM_001177716.2:c.608C>G | NP_001171187.1:p.Thr203Arg | |
| NM_001177718.2:c.608C>G | NP_001171189.1:p.Thr203Arg |