Revel Score:
ENST00000247933
0.685
ENST00000453894
0.685
ENST00000514224 (MANE Select)
0.685
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003349C>G , CM000666.2:g.1003349C>G | GRCh38 |
| NC_000004.11:g.997137C>G , CM000666.1:g.997137C>G | GRCh37 |
| NC_000004.10:g.987137C>G | NCBI36 |
| NG_008103.1:g.21353C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1529C>G | ENSP00000247933.4:p.Pro510Arg | |
| ENST00000514224.2:c.1529C>G MANE Select | ENSP00000425081.2:p.Pro510Arg | |
| ENST00000652070.1:n.1585C>G | ||
| ENST00000247933.8:c.1529C>G | ENSP00000247933.4:p.Pro510Arg | |
| ENST00000502829.1:n.518C>G | ||
| ENST00000514224.1:c.1133C>G | ENSP00000425081.1:p.Pro378Arg | |
| ENST00000514698.5:n.1636C>G | ||
| NM_000203.4:c.1529C>G | NP_000194.2:p.Pro510Arg | |
| NR_110313.1:n.1617C>G | ||
| XM_006713882.2:c.1133C>G | XP_006713945.1:p.Pro378Arg | |
| XM_011513459.1:c.1595C>G | XP_011511761.1:p.Pro532Arg | |
| XM_011513460.1:c.1388C>G | XP_011511762.1:p.Pro463Arg | |
| XM_011513461.1:c.1322C>G | XP_011511763.1:p.Pro441Arg | |
| XM_011513462.1:c.1241C>G | XP_011511764.1:p.Pro414Arg | |
| XM_011513463.1:c.1241C>G | XP_011511765.1:p.Pro414Arg | |
| XR_924947.1:n.1785C>G | ||
| NM_000203.5:c.1529C>G MANE Select | NP_000194.2:p.Pro510Arg | |
| NM_001363576.1:c.1133C>G | NP_001350505.1:p.Pro378Arg | |
| XM_011513461.2:c.1322C>G | XP_011511763.1:p.Pro441Arg | |
| XM_017008163.1:c.569C>G | XP_016863652.1:p.Pro190Arg |