Revel Score:
ENST00000457854
0.947
ENST00000222214 (MANE Select)
0.947
ENST00000421816
0.947
ENST00000422947
0.947
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896333C>T , CM000681.2:g.12896333C>T | GRCh38 |
| NC_000019.9:g.13007147C>T , CM000681.1:g.13007147C>T | GRCh37 |
| NC_000019.8:g.12868147C>T | NCBI36 |
| NG_009292.1:g.10174C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.764C>T MANE Select | ENSP00000222214.4:p.Ser255Leu | |
| ENST00000222214.9:c.764C>T | ENSP00000222214.4:p.Ser255Leu | |
| ENST00000421816.6:n.742C>T | ||
| ENST00000585420.5:n.1094C>T | ||
| ENST00000590530.5:c.*204C>T | ENSP00000468452.1:n.*204C>T | |
| ENST00000591043.1:n.800C>T | ||
| ENST00000591470.5:c.764C>T | ENSP00000466845.1:p.Ser255Leu | |
| NM_000159.3:c.764C>T | NP_000150.1:p.Ser255Leu | |
| NM_013976.3:c.764C>T | NP_039663.1:p.Ser255Leu | |
| NR_102316.1:n.927C>T | ||
| NR_102317.1:n.1145C>T | ||
| XM_006722721.2:c.764C>T | XP_006722784.1:p.Ser255Leu | |
| XM_011527899.1:c.764C>T | XP_011526201.1:p.Ser255Leu | |
| XM_011527900.1:c.764C>T | XP_011526202.1:p.Ser255Leu | |
| XM_011527899.2:c.764C>T | XP_011526201.1:p.Ser255Leu | |
| XM_011527900.2:c.764C>T | XP_011526202.1:p.Ser255Leu | |
| XM_017026580.1:c.764C>T | XP_016882069.1:p.Ser255Leu | |
| NM_000159.4:c.764C>T MANE Select | NP_000150.1:p.Ser255Leu | |
| NM_013976.4:c.764C>T | NP_039663.1:p.Ser255Leu | |
| NM_013976.5:c.764C>T | NP_039663.1:p.Ser255Leu |