Revel Score:
ENST00000286298 (MANE Select)
0.199
ENST00000433184
0.199
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977699C>T , CM000667.2:g.149977699C>T | GRCh38 |
| NC_000005.9:g.149357262C>T , CM000667.1:g.149357262C>T | GRCh37 |
| NC_000005.8:g.149337455C>T | NCBI36 |
| NG_007147.2:g.18817C>T , LRG_684:g.18817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.279C>T | ||
| ENST00000286298.5:c.47C>T MANE Select | ENSP00000286298.4:p.Ser16Leu | |
| ENST00000286298.4:c.47C>T | ENSP00000286298.4:p.Ser16Leu | |
| ENST00000433184.1:c.47C>T | ENSP00000405496.1:p.Ser16Leu | |
| NM_000112.3:c.47C>T , LRG_684t1:c.47C>T | NP_000103.2:p.Ser16Leu | |
| XM_017009191.2:c.47C>T | XP_016864680.1:p.Ser16Leu | |
| NM_000112.4:c.47C>T MANE Select | NP_000103.2:p.Ser16Leu |