Revel Score:
ENST00000359596 (MANE Select)
0.532
ENST00000355481
0.532
ENST00000360985
0.532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38504836A>C , CM000681.2:g.38504836A>C | GRCh38 |
| NC_000019.9:g.38995476A>C , CM000681.1:g.38995476A>C | GRCh37 |
| NC_000019.8:g.43687316A>C | NCBI36 |
| NG_008866.1:g.76137A>C , LRG_766:g.76137A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.8156A>C | ENSP00000471601.2:p.Tyr2719Ser | |
| ENST00000359596.8:c.8156A>C MANE Select | ENSP00000352608.2:p.Tyr2719Ser | |
| ENST00000355481.8:c.8156A>C | ENSP00000347667.3:p.Tyr2719Ser | |
| ENST00000359596.7:c.8156A>C | ENSP00000352608.2:p.Tyr2719Ser | |
| ENST00000360985.7:c.8153A>C | ENSP00000354254.4:p.Tyr2718Ser | |
| ENST00000594335.5:c.1608A>C | ||
| NM_000540.2:c.8156A>C , LRG_766t1:c.8156A>C | NP_000531.2:p.Tyr2719Ser | |
| NM_001042723.1:c.8156A>C | NP_001036188.1:p.Tyr2719Ser | |
| XM_006723317.1:c.8156A>C | XP_006723380.1:p.Tyr2719Ser | |
| XM_006723319.1:c.8156A>C | XP_006723382.1:p.Tyr2719Ser | |
| XM_011527204.1:c.8153A>C | XP_011525506.1:p.Tyr2718Ser | |
| XM_011527205.1:c.8156A>C | XP_011525507.1:p.Tyr2719Ser | |
| XM_006723317.2:c.8156A>C | XP_006723380.1:p.Tyr2719Ser | |
| XM_006723319.2:c.8156A>C | XP_006723382.1:p.Tyr2719Ser | |
| XM_011527205.2:c.8156A>C | XP_011525507.1:p.Tyr2719Ser | |
| XR_001753735.1:n.8239A>C | ||
| NM_000540.3:c.8156A>C MANE Select | NP_000531.2:p.Tyr2719Ser | |
| NM_001042723.2:c.8156A>C | NP_001036188.1:p.Tyr2719Ser |