Revel Score:
ENST00000380113 (MANE Select)
0.154
ENST00000455664
0.154
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3213196C>T , CM000682.2:g.3213196C>T | GRCh38 |
| NC_000020.10:g.3193842C>T , CM000682.1:g.3193842C>T | GRCh37 |
| NC_000020.9:g.3141842C>T | NCBI36 |
| NG_012093.1:g.8787C>T | |
| NG_012093.2:g.9330C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380113.8:c.94C>T MANE Select | ENSP00000369456.3:p.Pro32Ser | |
| ENST00000380113.7:c.94C>T | ENSP00000369456.3:p.Pro32Ser | |
| ENST00000399838.3:c.67-789C>T | ENSP00000382732.3:n.67-789C>T | |
| ENST00000455664.6:c.43C>T | ENSP00000413282.1:p.Pro15Ser | |
| ENST00000460550.5:n.133C>T | ||
| ENST00000460676.5:n.164C>T | ||
| ENST00000483354.5:n.194C>T | ||
| ENST00000490838.6:n.48-62C>T | ||
| ENST00000609835.5:n.118-62C>T | ||
| NM_001267623.1:c.67-789C>T | NP_001254552.1:n.67-789C>T | |
| NM_033453.3:c.94C>T | NP_258412.1:p.Pro32Ser | |
| NM_181493.2:c.43C>T | NP_852470.1:p.Pro15Ser | |
| NR_052000.1:n.194C>T | ||
| NR_052001.1:n.49-62C>T | ||
| NR_052002.1:n.286C>T | ||
| XM_006723564.2:c.94C>T | XP_006723627.1:p.Pro32Ser | |
| XM_006723565.2:c.67-789C>T | XP_006723628.1:n.67-789C>T | |
| XM_011529234.1:c.94C>T | XP_011527536.1:p.Pro32Ser | |
| XM_011529235.1:c.94C>T | XP_011527537.1:p.Pro32Ser | |
| NM_001324236.1:c.-274-62C>T | NP_001311165.1:n.-274-62C>T | |
| NM_001324237.1:c.-244C>T | NP_001311166.1:n.-244C>T | |
| NM_001324238.1:c.-274-62C>T | NP_001311167.1:n.-274-62C>T | |
| NM_001324240.1:c.94C>T | NP_001311169.1:p.Pro32Ser | |
| NM_001351739.1:c.-274-62C>T | NP_001338668.1:n.-274-62C>T | |
| NM_181493.3:c.43C>T | NP_852470.1:p.Pro15Ser | |
| XM_006723564.3:c.94C>T | XP_006723627.1:p.Pro32Ser | |
| XM_006723565.3:c.67-789C>T | XP_006723628.1:n.67-789C>T | |
| XM_011529234.2:c.94C>T | XP_011527536.1:p.Pro32Ser | |
| XM_024451880.1:c.-875-62C>T | XP_024307648.1:n.-875-62C>T | |
| NM_033453.4:c.94C>T MANE Select | NP_258412.1:p.Pro32Ser | |
| NM_001267623.2:c.67-789C>T | NP_001254552.1:n.67-789C>T | |
| NM_001324236.2:c.-274-62C>T | NP_001311165.1:n.-274-62C>T | |
| NM_001324237.2:c.-244C>T | NP_001311166.1:n.-244C>T | |
| NM_001324238.2:c.-274-62C>T | NP_001311167.1:n.-274-62C>T | |
| NM_001324240.2:c.94C>T | NP_001311169.1:p.Pro32Ser | |
| NM_001351739.2:c.-274-62C>T | NP_001338668.1:n.-274-62C>T | |
| NM_181493.4:c.43C>T | NP_852470.1:p.Pro15Ser | |
| NR_052000.2:n.386C>T | ||
| NR_052002.2:n.148C>T |