Revel Score:
ENST00000358432 (MANE Select)
0.249
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16138117G>A , CM000663.2:g.16138117G>A | GRCh38 |
| NC_000001.10:g.16464612G>A , CM000663.1:g.16464612G>A | GRCh37 |
| NC_000001.9:g.16337199G>A | NCBI36 |
| NG_021396.1:g.22971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.1048C>T MANE Select | ENSP00000351209.5:p.Pro350Ser | |
| ENST00000358432.7:c.1048C>T | ENSP00000351209.5:p.Pro350Ser | |
| ENST00000480202.1:n.253C>T | ||
| NM_004431.3:c.1048C>T | NP_004422.2:p.Pro350Ser | |
| NM_001329090.1:c.886C>T | NP_001316019.1:p.Pro296Ser | |
| NM_004431.4:c.1048C>T | NP_004422.2:p.Pro350Ser | |
| XM_017000537.1:c.1048C>T | XP_016856026.1:p.Pro350Ser | |
| NM_004431.5:c.1048C>T MANE Select | NP_004422.2:p.Pro350Ser | |
| NM_001329090.2:c.886C>T | NP_001316019.1:p.Pro296Ser |