Revel Score:
ENST00000247933
0.554
ENST00000453894
0.554
ENST00000514224 (MANE Select)
0.554
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003108G>C , CM000666.2:g.1003108G>C | GRCh38 |
| NC_000004.11:g.996896G>C , CM000666.1:g.996896G>C | GRCh37 |
| NC_000004.10:g.986896G>C | NCBI36 |
| NG_008103.1:g.21112G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1475G>C | ENSP00000247933.4:p.Arg492Pro | |
| ENST00000514224.2:c.1475G>C MANE Select | ENSP00000425081.2:p.Arg492Pro | |
| ENST00000652070.1:n.1531G>C | ||
| ENST00000247933.8:c.1475G>C | ENSP00000247933.4:p.Arg492Pro | |
| ENST00000502829.1:n.277G>C | ||
| ENST00000514224.1:c.1079G>C | ENSP00000425081.1:p.Arg360Pro | |
| ENST00000514698.5:n.1582G>C | ||
| NM_000203.4:c.1475G>C | NP_000194.2:p.Arg492Pro | |
| NR_110313.1:n.1563G>C | ||
| XM_006713882.2:c.1079G>C | XP_006713945.1:p.Arg360Pro | |
| XM_011513459.1:c.1541G>C | XP_011511761.1:p.Arg514Pro | |
| XM_011513460.1:c.1334G>C | XP_011511762.1:p.Arg445Pro | |
| XM_011513461.1:c.1268G>C | XP_011511763.1:p.Arg423Pro | |
| XM_011513462.1:c.1187G>C | XP_011511764.1:p.Arg396Pro | |
| XM_011513463.1:c.1187G>C | XP_011511765.1:p.Arg396Pro | |
| XR_924947.1:n.1544G>C | ||
| NM_000203.5:c.1475G>C MANE Select | NP_000194.2:p.Arg492Pro | |
| NM_001363576.1:c.1079G>C | NP_001350505.1:p.Arg360Pro | |
| XM_011513461.2:c.1268G>C | XP_011511763.1:p.Arg423Pro | |
| XM_017008163.1:c.515G>C | XP_016863652.1:p.Arg172Pro |