Revel Score:
ENST00000266126 (MANE Select)
0.937
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75004815C>A , CM000676.2:g.75004815C>A | GRCh38 |
| NC_000014.8:g.75471518C>A , CM000676.1:g.75471518C>A | GRCh37 |
| NC_000014.7:g.74541271C>A | NCBI36 |
| NG_013333.1:g.6907C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.512C>A MANE Select | ENSP00000266126.5:p.Ser171Tyr | |
| ENST00000266126.9:c.512C>A | ENSP00000266126.5:p.Ser171Tyr | |
| ENST00000553401.5:c.485C>A | ENSP00000451681.1:p.Ser162Tyr | |
| ENST00000553539.1:n.807C>A | ||
| ENST00000555522.1:n.570C>A | ||
| ENST00000556028.5:c.512C>A | ENSP00000452311.1:p.Ser171Tyr | |
| NM_014239.3:c.512C>A | NP_055054.1:p.Ser171Tyr | |
| NM_014239.4:c.512C>A MANE Select | NP_055054.1:p.Ser171Tyr |