Revel Score:
ENST00000437538
0.489
ENST00000261652 (MANE Select)
0.489
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003588 (SAS)
Exomes Max Group AF
0.00003765 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16940415G>A , CM000679.2:g.16940415G>A | GRCh38 |
| NC_000017.10:g.16843729G>A , CM000679.1:g.16843729G>A | GRCh37 |
| NC_000017.9:g.16784454G>A | NCBI36 |
| NG_007281.1:g.36674C>T , LRG_120:g.36674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.542C>T MANE Select | ENSP00000261652.2:p.Ala181Val | |
| ENST00000261652.6:c.542C>T | ENSP00000261652.2:p.Ala181Val | |
| ENST00000579009.1:n.648C>T | ||
| ENST00000579315.5:c.446-7239C>T | ENSP00000464069.1:n.446-7239C>T | |
| ENST00000582931.5:n.350-7478C>T | ||
| ENST00000583789.1:c.404C>T | ENSP00000462952.1:p.Ala135Val | |
| ENST00000584950.5:c.404C>T | ENSP00000463582.1:p.Ala135Val | |
| NM_012452.2:c.542C>T , LRG_120t1:c.542C>T | NP_036584.1:p.Ala181Val | |
| NM_012452.3:c.542C>T MANE Select | NP_036584.1:p.Ala181Val |