Revel Score:
ENST00000262738
0.137
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46390418T>A , CM000684.2:g.46390418T>A | GRCh38 |
| NC_000022.10:g.46786315T>A , CM000684.1:g.46786315T>A | GRCh37 |
| NC_000022.9:g.45164979T>A | NCBI36 |
| NG_030466.1:g.151753A>T | |
| NG_030466.2:g.151753A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262738.9:c.6319A>T | ENSP00000262738.3:p.Ile2107Phe | |
| ENST00000674341.1:n.1396A>T | ||
| ENST00000674500.2:c.6319A>T MANE Select | ENSP00000501367.2:p.Ile2107Phe | |
| ENST00000262738.7:c.6319A>T | ENSP00000262738.3:p.Ile2107Phe | |
| NM_014246.1:c.6319A>T | NP_055061.1:p.Ile2107Phe | |
| XM_006724383.2:c.6319A>T | XP_006724446.1:p.Ile2107Phe | |
| XM_011530554.1:c.2812A>T | XP_011528856.1:p.Ile938Phe | |
| XM_011530555.1:c.2716A>T | XP_011528857.1:p.Ile906Phe | |
| XM_006724383.3:c.6319A>T | XP_006724446.1:p.Ile2107Phe | |
| XM_011530554.2:c.2812A>T | XP_011528856.1:p.Ile938Phe | |
| XM_011530555.2:c.2716A>T | XP_011528857.1:p.Ile906Phe | |
| NM_014246.2:c.6319A>T | NP_055061.1:p.Ile2107Phe | |
| NM_014246.3:c.6319A>T | NP_055061.1:p.Ile2107Phe | |
| NM_001378328.1:c.6319A>T MANE Select | NP_001365257.1:p.Ile2107Phe | |
| NM_014246.4:c.6319A>T | NP_055061.1:p.Ile2107Phe |