Revel Score:
ENST00000397906 (MANE Select)
0.361
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27982484A>T , CM000684.2:g.27982484A>T | GRCh38 |
| NC_000022.10:g.28378472A>T , CM000684.1:g.28378472A>T | GRCh37 |
| NC_000022.9:g.26708472A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397906.7:c.7183T>A (TTC28) MANE Select | ENSP00000381003.2:p.Leu2395Met | |
| ENST00000397906.6:c.7183T>A (TTC28) | ENSP00000381003.2:p.Leu2395Met | |
| ENST00000612946.4:c.6802T>A (TTC28) | ENSP00000479834.1:p.Leu2268Met | |
| NM_001145418.1:c.7183T>A (TTC28) | NP_001138890.1:p.Leu2395Met | |
| NR_026963.1:n.251-11989A>T (TTC28-AS1) | ||
| XM_005261405.2:c.7159T>A (TTC28) | XP_005261462.1:p.Leu2387Met | |
| XM_006724171.2:c.6829T>A (TTC28) | XP_006724234.1:p.Leu2277Met | |
| XM_011530018.1:c.7105T>A (TTC28) | XP_011528320.1:p.Leu2369Met | |
| XM_006724171.4:c.6829T>A (TTC28) | XP_006724234.1:p.Leu2277Met | |
| XM_011530018.3:c.7105T>A (TTC28) | XP_011528320.1:p.Leu2369Met | |
| XM_017028673.2:c.7093T>A (TTC28) | XP_016884162.1:p.Leu2365Met | |
| NM_001145418.2:c.7183T>A (TTC28) MANE Select | NP_001138890.1:p.Leu2395Met | |
| NM_001393403.1:c.7159T>A (TTC28) | NP_001380332.1:p.Leu2387Met | |
| NM_001393404.1:c.6829T>A (TTC28) | NP_001380333.1:p.Leu2277Met | |
| NM_001393405.1:c.6805T>A (TTC28) | NP_001380334.1:p.Leu2269Met |