Revel Score:
ENST00000227348 (MANE Select)
0.304
ENST00000533709
0.304
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.122867553A>T , CM000673.2:g.122867553A>T | GRCh38 |
| NC_000011.9:g.122738261A>T , CM000673.1:g.122738261A>T | GRCh37 |
| NC_000011.8:g.122243471A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227348.9:c.962A>T MANE Select | ENSP00000227348.4:p.Lys321Ile | |
| ENST00000227348.8:c.962A>T | ENSP00000227348.4:p.Lys321Ile | |
| ENST00000533416.1:n.274A>T | ||
| ENST00000533709.1:c.365A>T | ENSP00000433728.1:p.Lys122Ile | |
| NM_001304782.1:c.365A>T | NP_001291711.1:p.Lys122Ile | |
| NM_019604.3:c.962A>T | NP_062550.2:p.Lys321Ile | |
| XM_011542900.1:c.809A>T | XP_011541202.1:p.Lys270Ile | |
| XM_011542900.2:c.809A>T | XP_011541202.1:p.Lys270Ile | |
| NM_019604.4:c.962A>T MANE Select | NP_062550.2:p.Lys321Ile | |
| NM_001304782.2:c.365A>T | NP_001291711.1:p.Lys122Ile |