Revel Score:
ENST00000457854
0.929
ENST00000222214 (MANE Select)
0.929
ENST00000421816
0.929
ENST00000422947
0.929
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896312C>T , CM000681.2:g.12896312C>T | GRCh38 |
| NC_000019.9:g.13007126C>T , CM000681.1:g.13007126C>T | GRCh37 |
| NC_000019.8:g.12868126C>T | NCBI36 |
| NG_009292.1:g.10153C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.743C>T MANE Select | ENSP00000222214.4:p.Pro248Leu | |
| ENST00000222214.9:c.743C>T | ENSP00000222214.4:p.Pro248Leu | |
| ENST00000421816.6:n.721C>T | ||
| ENST00000585420.5:n.1073C>T | ||
| ENST00000590530.5:c.*183C>T | ENSP00000468452.1:n.*183C>T | |
| ENST00000591043.1:n.779C>T | ||
| ENST00000591470.5:c.743C>T | ENSP00000466845.1:p.Pro248Leu | |
| NM_000159.3:c.743C>T | NP_000150.1:p.Pro248Leu | |
| NM_013976.3:c.743C>T | NP_039663.1:p.Pro248Leu | |
| NR_102316.1:n.906C>T | ||
| NR_102317.1:n.1124C>T | ||
| XM_006722721.2:c.743C>T | XP_006722784.1:p.Pro248Leu | |
| XM_011527899.1:c.743C>T | XP_011526201.1:p.Pro248Leu | |
| XM_011527900.1:c.743C>T | XP_011526202.1:p.Pro248Leu | |
| XM_011527899.2:c.743C>T | XP_011526201.1:p.Pro248Leu | |
| XM_011527900.2:c.743C>T | XP_011526202.1:p.Pro248Leu | |
| XM_017026580.1:c.743C>T | XP_016882069.1:p.Pro248Leu | |
| NM_000159.4:c.743C>T MANE Select | NP_000150.1:p.Pro248Leu | |
| NM_013976.4:c.743C>T | NP_039663.1:p.Pro248Leu | |
| NM_013976.5:c.743C>T | NP_039663.1:p.Pro248Leu |