Revel Score:
ENST00000170447 (MANE Select)
0.333
ENST00000411987
0.333
ENST00000448482
0.333
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12574979C>T , CM000665.2:g.12574979C>T | GRCh38 |
| NC_000003.11:g.12616478C>T , CM000665.1:g.12616478C>T | GRCh37 |
| NC_000003.10:g.12591478C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000170447.12:c.830C>T MANE Select | ENSP00000170447.7:p.Ala277Val | |
| ENST00000676541.1:c.812C>T | ENSP00000503730.1:p.Ala271Val | |
| ENST00000676544.1:n.924C>T | ||
| ENST00000676701.1:c.*726C>T | ENSP00000503305.1:n.*726C>T | |
| ENST00000677142.1:c.863C>T | ENSP00000504455.1:p.Ala288Val | |
| ENST00000677237.1:n.924C>T | ||
| ENST00000677798.1:c.287C>T | ENSP00000503754.1:p.Ala96Val | |
| ENST00000677816.1:c.830C>T | ENSP00000502893.1:p.Ala277Val | |
| ENST00000677941.1:n.924C>T | ||
| ENST00000679143.1:c.*453C>T | ENSP00000504009.1:n.*453C>T | |
| ENST00000170447.11:c.830C>T | ENSP00000170447.7:p.Ala277Val | |
| ENST00000411987.5:c.701C>T | ENSP00000396340.1:p.Ala234Val | |
| ENST00000448482.1:c.824C>T | ENSP00000397983.1:p.Ala275Val | |
| NM_001271707.1:c.701C>T | NP_001258636.1:p.Ala234Val | |
| NM_014160.4:c.830C>T | NP_054879.3:p.Ala277Val | |
| NM_014160.5:c.830C>T MANE Select | NP_054879.3:p.Ala277Val | |
| NM_001271707.2:c.701C>T | NP_001258636.1:p.Ala234Val |