Revel Score:
ENST00000451457
0.309
ENST00000420702 (MANE Select)
0.309
gnomAD v4:
Joint Max Group AF
0.00000131 (NFE)
Exomes Max Group AF
0.0000014 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136233488C>A , CM000668.2:g.136233488C>A | GRCh38 |
| NC_000006.11:g.136554626C>A , CM000668.1:g.136554626C>A | GRCh37 |
| NC_000006.10:g.136596319C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420702.6:c.881G>T MANE Select | ENSP00000395232.1:p.Gly294Val | |
| ENST00000367784.6:c.*846G>T | ENSP00000356758.2:n.*846G>T | |
| ENST00000420702.5:c.881G>T | ENSP00000395232.1:p.Gly294Val | |
| ENST00000451457.6:c.881G>T | ENSP00000407010.2:p.Gly294Val | |
| ENST00000532958.1:c.93G>T | ||
| NM_001099286.1:c.881G>T | NP_001092756.1:p.Gly294Val | |
| NM_138419.3:c.881G>T | NP_612428.2:p.Gly294Val | |
| XM_011535410.1:c.752G>T | XP_011533712.1:p.Gly251Val | |
| XM_011535411.1:c.752G>T | XP_011533713.1:p.Gly251Val | |
| XM_011535412.1:c.752G>T | XP_011533714.1:p.Gly251Val | |
| XM_011535413.1:c.752G>T | XP_011533715.1:p.Gly251Val | |
| NM_001099286.2:c.881G>T | NP_001092756.1:p.Gly294Val | |
| NM_001318738.1:c.752G>T | NP_001305667.1:p.Gly251Val | |
| NM_138419.4:c.881G>T | NP_612428.2:p.Gly294Val | |
| XM_011535410.2:c.752G>T | XP_011533712.1:p.Gly251Val | |
| XM_011535412.2:c.752G>T | XP_011533714.1:p.Gly251Val | |
| XM_011535413.2:c.752G>T | XP_011533715.1:p.Gly251Val | |
| NM_001099286.3:c.881G>T MANE Select | NP_001092756.1:p.Gly294Val | |
| NM_001318738.2:c.752G>T | NP_001305667.1:p.Gly251Val | |
| NM_138419.5:c.881G>T | NP_612428.2:p.Gly294Val |