Revel Score:
ENST00000317306 (MANE Select)
0.096
ENST00000379695
0.096
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17821329T>G , CM000681.2:g.17821329T>G | GRCh38 |
| NC_000019.9:g.17932138T>G , CM000681.1:g.17932138T>G | GRCh37 |
| NC_000019.8:g.17793138T>G | NCBI36 |
| NG_012092.1:g.5183A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317306.8:c.178A>C MANE Select | ENSP00000321724.6:p.Thr60Pro | |
| ENST00000317306.7:c.178A>C | ENSP00000321724.6:p.Thr60Pro | |
| ENST00000379695.5:c.178A>C | ENSP00000369017.4:p.Thr60Pro | |
| ENST00000598577.1:c.177A>C | ||
| NM_001265587.1:c.178A>C | NP_001252516.1:p.Thr60Pro | |
| NM_005543.3:c.178A>C | NP_005534.2:p.Thr60Pro | |
| NM_001265587.2:c.178A>C | NP_001252516.1:p.Thr60Pro | |
| NM_005543.4:c.178A>C MANE Select | NP_005534.2:p.Thr60Pro |