Revel Score:
ENST00000360526 (MANE Select)
0.261
ENST00000361503
0.261
ENST00000422046
0.261
ENST00000426667
0.261
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55823658C>A , CM000678.2:g.55823658C>A | GRCh38 |
| NC_000016.9:g.55857570C>A , CM000678.1:g.55857570C>A | GRCh37 |
| NC_000016.8:g.54415071C>A | NCBI36 |
| NG_012057.1:g.14506G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360526.8:c.431G>T MANE Select | ENSP00000353720.4:p.Gly144Val | |
| ENST00000360526.7:c.431G>T | ENSP00000353720.3:p.Gly144Val | |
| ENST00000361503.8:c.428G>T | ENSP00000355193.4:p.Gly143Val | |
| ENST00000422046.6:c.428G>T | ENSP00000390492.2:p.Gly143Val | |
| ENST00000563005.5:n.264G>T | ||
| ENST00000565403.5:n.127G>T | ||
| ENST00000566555.1:n.458G>T | ||
| NM_001025194.1:c.428G>T | NP_001020365.1:p.Gly143Val | |
| NM_001025195.1:c.431G>T | NP_001020366.1:p.Gly144Val | |
| NM_001266.4:c.428G>T | NP_001257.4:p.Gly143Val | |
| XM_005255774.1:c.431G>T | XP_005255831.1:p.Gly144Val | |
| XM_011522816.1:c.431G>T | XP_011521118.1:p.Gly144Val | |
| XM_005255774.2:c.431G>T | XP_005255831.1:p.Gly144Val | |
| NM_001025194.2:c.428G>T | NP_001020365.1:p.Gly143Val | |
| NM_001025195.2:c.431G>T MANE Select | NP_001020366.1:p.Gly144Val | |
| NM_001266.5:c.428G>T | NP_001257.4:p.Gly143Val |