Revel Score:
ENST00000377075 (MANE Select)
0.902
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761598C>A , CM000664.2:g.96761598C>A | GRCh38 |
| NC_000002.11:g.97427335C>A , CM000664.1:g.97427335C>A | GRCh37 |
| NC_000002.10:g.96791062C>A | NCBI36 |
| NG_016608.1:g.5697C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.599C>A MANE Select | ENSP00000366275.2:p.Ser200Tyr | |
| ENST00000377075.2:c.599C>A | ENSP00000366275.2:p.Ser200Tyr | |
| NM_020184.3:c.599C>A | NP_064569.3:p.Ser200Tyr | |
| XM_005263914.2:c.599C>A | XP_005263971.1:p.Ser200Tyr | |
| XM_005263915.2:c.599C>A | XP_005263972.1:p.Ser200Tyr | |
| XM_011510955.1:c.599C>A | XP_011509257.1:p.Ser200Tyr | |
| XM_011510956.1:c.599C>A | XP_011509258.1:p.Ser200Tyr | |
| XM_005263914.4:c.599C>A | XP_005263971.1:p.Ser200Tyr | |
| XM_005263915.4:c.599C>A | XP_005263972.1:p.Ser200Tyr | |
| XM_011510955.3:c.599C>A | XP_011509257.1:p.Ser200Tyr | |
| XM_011510956.3:c.599C>A | XP_011509258.1:p.Ser200Tyr | |
| NM_020184.4:c.599C>A MANE Select | NP_064569.3:p.Ser200Tyr |