Revel Score:
ENST00000355773 (MANE Select)
0.713
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73615425G>A , CM000668.2:g.73615425G>A | GRCh38 |
| NC_000006.11:g.74325148G>A , CM000668.1:g.74325148G>A | GRCh37 |
| NC_000006.10:g.74381869G>A | NCBI36 |
| NG_008272.1:g.43590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1001C>T MANE Select | ENSP00000348019.5:p.Pro334Leu | |
| ENST00000355773.5:c.1001C>T | ENSP00000348019.5:p.Pro334Leu | |
| NM_012434.4:c.1001C>T | NP_036566.1:p.Pro334Leu | |
| XM_005248710.2:c.950C>T | XP_005248767.1:p.Pro317Leu | |
| XM_005248711.1:c.803C>T | XP_005248768.1:p.Pro268Leu | |
| XM_011535750.1:c.1001C>T | XP_011534052.1:p.Pro334Leu | |
| NM_012434.5:c.1001C>T MANE Select | NP_036566.1:p.Pro334Leu | |
| NM_001382629.1:c.770C>T | NP_001369558.1:p.Pro257Leu | |
| NM_001382630.1:c.1001C>T | NP_001369559.1:p.Pro334Leu | |
| NM_001382631.1:c.1022C>T | NP_001369560.1:p.Pro341Leu | |
| NM_001382632.1:c.914C>T | NP_001369561.1:p.Pro305Leu | |
| NM_001382633.1:c.1001C>T | NP_001369562.1:p.Pro334Leu | |
| NM_001382634.1:c.842C>T | NP_001369563.1:p.Pro281Leu | |
| NM_001382635.1:c.998C>T | NP_001369564.1:p.Pro333Leu | |
| NM_001382636.1:c.683C>T | NP_001369565.1:p.Pro228Leu |