Revel Score:
ENST00000265304 (MANE Select)
0.815
ENST00000498107
0.815
ENST00000467681
0.815
ENST00000465582
0.815
ENST00000463093
0.815
ENST00000484178
0.815
ENST00000481508
0.815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141743594G>T , CM000669.2:g.141743594G>T | GRCh38 |
| NC_000007.13:g.141443394G>T , CM000669.1:g.141443394G>T | GRCh37 |
| NC_000007.12:g.141089863G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265304.11:c.119G>T MANE Select | ENSP00000265304.6:p.Gly40Val | |
| ENST00000265304.10:c.119G>T | ENSP00000265304.6:p.Gly40Val | |
| ENST00000463093.5:c.119G>T | ENSP00000419579.1:p.Gly40Val | |
| ENST00000465167.1:n.211G>T | ||
| ENST00000465582.5:c.119G>T | ENSP00000420485.1:p.Gly40Val | |
| ENST00000467681.5:c.119G>T | ENSP00000418068.1:p.Gly40Val | |
| ENST00000469123.5:n.232G>T | ||
| ENST00000481508.1:c.119G>T | ENSP00000419665.1:p.Gly40Val | |
| ENST00000484178.5:c.119G>T | ENSP00000419388.1:p.Gly40Val | |
| ENST00000489378.5:n.208G>T | ||
| ENST00000498107.5:c.119G>T | ENSP00000419541.1:p.Gly40Val | |
| ENST00000612337.4:c.119G>T | ENSP00000480488.1:p.Gly40Val | |
| NM_001256510.1:c.119G>T | NP_001243439.1:p.Gly40Val | |
| NM_001256511.1:c.119G>T | NP_001243440.1:p.Gly40Val | |
| NM_001256512.1:c.119G>T | NP_001243441.1:p.Gly40Val | |
| NM_001256513.1:c.119G>T | NP_001243442.1:p.Gly40Val | |
| NM_003143.2:c.119G>T | NP_003134.1:p.Gly40Val | |
| NR_046269.1:n.302G>T | ||
| XM_005250048.3:c.119G>T | XP_005250105.1:p.Gly40Val | |
| XM_005250049.3:c.119G>T | XP_005250106.1:p.Gly40Val | |
| XM_005250050.3:c.119G>T | XP_005250107.1:p.Gly40Val | |
| XM_005250051.3:c.119G>T | XP_005250108.1:p.Gly40Val | |
| XM_005250048.5:c.119G>T | XP_005250105.1:p.Gly40Val | |
| XM_005250049.5:c.119G>T | XP_005250106.1:p.Gly40Val | |
| XM_005250050.5:c.119G>T | XP_005250107.1:p.Gly40Val | |
| XM_005250051.5:c.119G>T | XP_005250108.1:p.Gly40Val | |
| NM_003143.3:c.119G>T MANE Select | NP_003134.1:p.Gly40Val |