Revel Score:
ENST00000299314 (MANE Select)
0.813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753435G>A , CM000674.2:g.101753435G>A | GRCh38 |
| NC_000012.11:g.102147213G>A , CM000674.1:g.102147213G>A | GRCh37 |
| NC_000012.10:g.100671344G>A | NCBI36 |
| NG_021243.1:g.82433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3539C>T MANE Select | ENSP00000299314.7:p.Ser1180Phe | |
| ENST00000299314.11:c.3539C>T | ENSP00000299314.7:p.Ser1180Phe | |
| ENST00000549738.5:c.437C>T | ENSP00000450161.1:n.437C>T | |
| NM_024312.4:c.3539C>T | NP_077288.2:p.Ser1180Phe | |
| XM_011538731.1:c.3458C>T | XP_011537033.1:p.Ser1153Phe | |
| XM_011538731.2:c.3458C>T | XP_011537033.1:p.Ser1153Phe | |
| XM_017019961.1:c.3323C>T | XP_016875450.1:p.Ser1108Phe | |
| XM_017019962.2:c.2312C>T | XP_016875451.1:p.Ser771Phe | |
| NM_024312.5:c.3539C>T MANE Select | NP_077288.2:p.Ser1180Phe |