Revel Score:
ENST00000039007 (MANE Select)
0.727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403697G>A , CM000685.2:g.38403697G>A | GRCh38 |
| NC_000023.10:g.38262950G>A , CM000685.1:g.38262950G>A | GRCh37 |
| NC_000023.9:g.38147894G>A | NCBI36 |
| NG_008471.1:g.56215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.620G>A MANE Select | ENSP00000039007.4:p.Ser207Asn | |
| ENST00000643344.1:c.*370G>A | ENSP00000496606.1:n.*370G>A | |
| ENST00000039007.4:c.620G>A | ENSP00000039007.4:p.Ser207Asn | |
| ENST00000465127.1:c.172-262424G>A | ENSP00000417050.1:n.172-262424G>A | |
| NM_000531.5:c.620G>A | NP_000522.3:p.Ser207Asn | |
| XM_017029556.1:c.620G>A | XP_016885045.1:p.Ser207Asn | |
| NM_000531.6:c.620G>A MANE Select | NP_000522.3:p.Ser207Asn |