Revel Score:
ENST00000204679 (MANE Select)
0.119
ENST00000529110
0.042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1352123C>G , CM000678.2:g.1352123C>G | GRCh38 |
| NC_000016.9:g.1402124C>G , CM000678.1:g.1402124C>G | GRCh37 |
| NC_000016.8:g.1342125C>G | NCBI36 |
| NG_016985.1:g.5225C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.94C>G | ||
| ENST00000529110.2:c.158C>G | ENSP00000435349.2:p.Ala53Gly | |
| ENST00000529957.6:n.53C>G | ||
| ENST00000683366.1:c.74C>G | ENSP00000507283.1:p.Ala25Gly | |
| ENST00000683887.1:c.74C>G | ENSP00000506886.1:p.Ala25Gly | |
| ENST00000684126.1:n.53C>G | ||
| ENST00000204679.9:c.74C>G MANE Select | ENSP00000204679.4:p.Ala25Gly | |
| ENST00000204679.8:c.74C>G | ENSP00000204679.4:p.Ala25Gly | |
| ENST00000526820.5:c.74C>G | ENSP00000434413.1:p.Ala25Gly | |
| ENST00000527137.2:c.74C>G | ENSP00000480060.1:p.Ala25Gly | |
| ENST00000527168.5:n.86C>G | ||
| ENST00000527876.5:c.74C>G | ENSP00000460728.1:p.Ala25Gly | |
| ENST00000529110.1:c.141C>G | ||
| ENST00000529957.5:n.94C>G | ||
| ENST00000534197.5:n.92C>G | ||
| NM_032520.4:c.74C>G | NP_115909.1:p.Ala25Gly | |
| XM_017023782.1:c.74C>G | XP_016879271.1:p.Ala25Gly | |
| NM_032520.5:c.74C>G MANE Select | NP_115909.1:p.Ala25Gly |