Revel Score:
ENST00000543948
0.514
ENST00000219599
0.514
ENST00000396023
0.514
ENST00000415987
0.514
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21258785T>G , CM000678.2:g.21258785T>G | GRCh38 |
| NC_000016.9:g.21270106T>G , CM000678.1:g.21270106T>G | GRCh37 |
| NC_000016.8:g.21177607T>G | NCBI36 |
| NG_011610.1:g.49312A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219599.8:c.941A>C | ENSP00000219599.3:p.Lys314Thr | |
| ENST00000572914.2:c.941A>C MANE Select | ENSP00000461904.2:p.Lys314Thr | |
| ENST00000219599.7:c.941A>C | ENSP00000219599.3:p.Lys314Thr | |
| ENST00000543948.5:c.941A>C | ENSP00000440227.1:p.Lys314Thr | |
| ENST00000570401.5:c.264+4A>C | ||
| ENST00000574448.5:c.*520+2469A>C | ENSP00000459982.1:n.*520+2469A>C | |
| NM_001888.4:c.941A>C | NP_001879.1:p.Lys314Thr | |
| XM_011545740.1:c.941A>C | XP_011544042.1:p.Lys314Thr | |
| XR_950904.1:n.735+3992T>G | ||
| XM_024450157.1:c.941A>C | XP_024305925.1:p.Lys314Thr | |
| NM_001888.5:c.941A>C | NP_001879.1:p.Lys314Thr | |
| NM_001376256.1:c.941A>C MANE Select | NP_001363185.1:p.Lys314Thr |