Revel Score:
ENST00000264005 (MANE Select)
0.576
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942939C>T , CM000678.2:g.67942939C>T | GRCh38 |
| NC_000016.9:g.67976842C>T , CM000678.1:g.67976842C>T | GRCh37 |
| NC_000016.8:g.66534343C>T | NCBI36 |
| NG_009778.1:g.6174G>A | |
| NG_033098.1:g.30756G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.349G>A MANE Select | ENSP00000264005.5:p.Ala117Thr | |
| ENST00000264005.9:c.349G>A | ENSP00000264005.5:p.Ala117Thr | |
| ENST00000570369.5:c.77G>A | ||
| ENST00000570980.1:c.133G>A | ENSP00000464651.1:p.Ala45Thr | |
| ENST00000575277.1:n.127G>A | ||
| ENST00000575467.5:c.*44G>A | ENSP00000460653.1:n.*44G>A | |
| NM_000229.1:c.349G>A | NP_000220.1:p.Ala117Thr | |
| NM_000229.2:c.349G>A MANE Select | NP_000220.1:p.Ala117Thr |