Revel Score:
ENST00000553493
0.229
ENST00000254301 (MANE Select)
0.229
ENST00000554715
0.229
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55138217C>G , CM000676.2:g.55138217C>G | GRCh38 |
| NC_000014.8:g.55604935C>G , CM000676.1:g.55604935C>G | GRCh37 |
| NC_000014.7:g.54674688C>G | NCBI36 |
| NG_017089.1:g.14001C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254301.14:c.191C>G MANE Select | ENSP00000254301.9:p.Pro64Arg | |
| ENST00000254301.13:c.191C>G | ENSP00000254301.9:p.Pro64Arg | |
| ENST00000553493.5:c.191C>G | ENSP00000451526.1:p.Pro64Arg | |
| ENST00000553755.5:n.218C>G | ||
| ENST00000554715.1:c.191C>G | ENSP00000451381.1:p.Pro64Arg | |
| ENST00000556263.1:n.174C>G | ||
| ENST00000556322.1:n.264C>G | ||
| ENST00000556438.6:n.1030C>G | ||
| NM_001177388.1:c.191C>G | NP_001170859.1:p.Pro64Arg | |
| NM_002306.3:c.191C>G | NP_002297.2:p.Pro64Arg | |
| NR_003225.2:n.1235C>G | ||
| XM_011536759.1:c.191C>G | XP_011535061.1:p.Pro64Arg | |
| NM_001357678.1:c.233C>G | NP_001344607.1:p.Pro78Arg | |
| NM_002306.4:c.191C>G MANE Select | NP_002297.2:p.Pro64Arg | |
| NM_001357678.2:c.233C>G | NP_001344607.1:p.Pro78Arg |