Revel Score:
ENST00000355710 (MANE Select)
0.339
ENST00000340058
0.339
ENST00000535749
0.339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43102596C>A , CM000672.2:g.43102596C>A | GRCh38 |
| NC_000010.10:g.43598044C>A , CM000672.1:g.43598044C>A | GRCh37 |
| NC_000010.9:g.42918050C>A | NCBI36 |
| NG_007489.1:g.30528C>A , LRG_518:g.30528C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.592C>A | ENSP00000480088.2:p.Pro198Thr | |
| ENST00000683278.1:c.513C>A | ||
| ENST00000684216.1:c.494C>A | ||
| ENST00000340058.6:c.592C>A | ENSP00000344798.4:p.Pro198Thr | |
| ENST00000355710.8:c.592C>A MANE Select | ENSP00000347942.3:p.Pro198Thr | |
| ENST00000638465.1:c.534C>A | ||
| ENST00000640619.1:c.365C>A | ||
| ENST00000671844.1:c.592C>A | ENSP00000500541.1:p.Pro198Thr | |
| ENST00000672389.1:c.74-8611C>A | ENSP00000500252.1:n.74-8611C>A | |
| ENST00000340058.5:c.592C>A | ENSP00000344798.4:p.Pro198Thr | |
| ENST00000355710.7:c.592C>A | ENSP00000347942.3:p.Pro198Thr | |
| ENST00000498820.5:c.74-9503C>A | ENSP00000419080.1:n.74-9503C>A | |
| ENST00000615310.4:c.592C>A | ENSP00000480088.1:p.Pro198Thr | |
| NM_020630.4:c.592C>A , LRG_518t2:c.592C>A | NP_065681.1:p.Pro198Thr | |
| NM_020975.4:c.592C>A , LRG_518t1:c.592C>A | NP_066124.1:p.Pro198Thr | |
| XM_011540027.1:c.592C>A | XP_011538329.1:p.Pro198Thr | |
| NM_020630.5:c.592C>A | NP_065681.1:p.Pro198Thr | |
| NM_020975.5:c.592C>A | NP_066124.1:p.Pro198Thr | |
| NM_020975.6:c.592C>A MANE Select | NP_066124.1:p.Pro198Thr | |
| NM_020630.6:c.592C>A | NP_065681.1:p.Pro198Thr |