Revel Score:
ENST00000260197 (MANE Select)
0.148
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121522975G>T , CM000673.2:g.121522975G>T | GRCh38 |
| NC_000011.9:g.121393684G>T , CM000673.1:g.121393684G>T | GRCh37 |
| NC_000011.8:g.120898894G>T | NCBI36 |
| NG_023313.1:g.75724G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.1582G>T MANE Select | ENSP00000260197.6:p.Ala528Ser | |
| ENST00000260197.11:c.1582G>T | ENSP00000260197.6:p.Ala528Ser | |
| ENST00000532451.1:n.1534G>T | ||
| NM_003105.5:c.1582G>T | NP_003096.1:p.Ala528Ser | |
| XM_011542963.1:c.1582G>T | XP_011541265.1:p.Ala528Ser | |
| XM_011542964.1:c.1582G>T | XP_011541266.1:p.Ala528Ser | |
| XM_011542965.1:c.-41G>T | XP_011541267.1:n.-41G>T | |
| XM_011542963.3:c.1582G>T | XP_011541265.1:p.Ala528Ser | |
| XM_011542965.3:c.-41G>T | XP_011541267.1:n.-41G>T | |
| XM_017018169.2:c.1270G>T | XP_016873658.1:p.Ala424Ser | |
| XM_017018170.2:c.1057G>T | XP_016873659.1:p.Ala353Ser | |
| XM_017018171.1:c.1582G>T | XP_016873660.1:p.Ala528Ser | |
| NM_003105.6:c.1582G>T MANE Select | NP_003096.2:p.Ala528Ser |