Revel Score:
ENST00000266546 (MANE Select)
0.255
ENST00000537408
0.255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7135838T>G , CM000674.2:g.7135838T>G | GRCh38 |
| NC_000012.11:g.7288434T>G , CM000674.1:g.7288434T>G | GRCh37 |
| NC_000012.10:g.7179701T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266546.11:c.627T>G MANE Select | ENSP00000266546.6:p.Ser209Arg | |
| ENST00000266546.10:c.627T>G | ENSP00000266546.6:p.Ser209Arg | |
| ENST00000537408.1:c.663T>G | ENSP00000440679.1:p.Ser221Arg | |
| ENST00000540931.1:n.122T>G | ||
| ENST00000541667.5:n.354T>G | ||
| NM_014718.3:c.627T>G | NP_055533.2:p.Ser209Arg | |
| XM_006719163.2:c.663T>G | XP_006719226.1:p.Ser221Arg | |
| XM_006719163.4:c.663T>G | XP_006719226.1:p.Ser221Arg | |
| NM_014718.4:c.627T>G MANE Select | NP_055533.2:p.Ser209Arg |