Revel Score:
ENST00000370449
0.232
ENST00000370434
0.232
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99784690A>G , CM000672.2:g.99784690A>G | GRCh38 |
| NC_000010.10:g.101544447A>G , CM000672.1:g.101544447A>G | GRCh37 |
| NC_000010.9:g.101534437A>G | NCBI36 |
| NG_011798.2:g.7093A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.116A>G MANE Select | ENSP00000497274.1:p.Tyr39Cys | |
| ENST00000647836.1:n.321A>G | ||
| ENST00000648324.1:c.116A>G | ENSP00000497248.1:p.Tyr39Cys | |
| ENST00000648689.1:c.116A>G | ENSP00000496972.1:p.Tyr39Cys | |
| ENST00000649493.1:c.116A>G | ENSP00000496847.1:p.Tyr39Cys | |
| ENST00000649932.1:c.116A>G | ENSP00000498120.1:p.Tyr39Cys | |
| ENST00000370434.1:c.116A>G | ENSP00000359463.1:p.Tyr39Cys | |
| ENST00000370449.8:c.116A>G | ENSP00000359478.4:p.Tyr39Cys | |
| XM_006717631.2:c.116A>G | XP_006717694.1:p.Tyr39Cys | |
| XM_011539291.1:c.116A>G | XP_011537593.1:p.Tyr39Cys | |
| XR_945604.1:n.305A>G | ||
| XR_945605.1:n.307A>G | ||
| NM_000392.5:c.116A>G MANE Select | NP_000383.2:p.Tyr39Cys | |
| XM_006717631.4:c.116A>G | XP_006717694.1:p.Tyr39Cys | |
| XM_011539291.3:c.116A>G | XP_011537593.1:p.Tyr39Cys | |
| XM_017015675.2:c.116A>G | XP_016871164.1:p.Tyr39Cys | |
| XR_945604.3:n.359A>G | ||
| XR_945605.3:n.359A>G |