Revel Score:
ENST00000503569
0.977
ENST00000226760 (MANE Select)
0.977
ENST00000540337
0.977
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301990G>C , CM000666.2:g.6301990G>C | GRCh38 |
| NC_000004.11:g.6303717G>C , CM000666.1:g.6303717G>C | GRCh37 |
| NC_000004.10:g.6354618G>C | NCBI36 |
| NG_011700.1:g.37141G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2231G>C | ENSP00000507852.1:p.Arg744Pro | |
| ENST00000683395.1:c.2172G>C | ||
| ENST00000684087.1:c.2195G>C | ENSP00000506978.1:p.Arg732Pro | |
| ENST00000506362.2:c.1946G>C | ENSP00000424103.2:p.Arg649Pro | |
| ENST00000673642.1:c.1854G>C | ENSP00000501242.1:n.1854G>C | |
| ENST00000673991.1:c.2231G>C | ENSP00000501033.1:p.Arg744Pro | |
| ENST00000226760.5:c.2195G>C MANE Select | ENSP00000226760.1:p.Arg732Pro | |
| ENST00000503569.5:c.2195G>C | ENSP00000423337.1:p.Arg732Pro | |
| ENST00000507765.1:n.2380G>C | ||
| NM_001145853.1:c.2195G>C | NP_001139325.1:p.Arg732Pro | |
| NM_006005.3:c.2195G>C MANE Select | NP_005996.2:p.Arg732Pro | |
| XM_017008586.1:c.2204G>C | XP_016864075.1:p.Arg735Pro |