Revel Score:
ENST00000503569
0.834
ENST00000226760 (MANE Select)
0.834
ENST00000540337
0.834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302287G>C , CM000666.2:g.6302287G>C | GRCh38 |
| NC_000004.11:g.6304014G>C , CM000666.1:g.6304014G>C | GRCh37 |
| NC_000004.10:g.6354915G>C | NCBI36 |
| NG_011700.1:g.37438G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2528G>C | ENSP00000507852.1:p.Gly843Ala | |
| ENST00000683395.1:c.2469G>C | ||
| ENST00000684087.1:c.2492G>C | ENSP00000506978.1:p.Gly831Ala | |
| ENST00000506362.2:c.2243G>C | ENSP00000424103.2:p.Gly748Ala | |
| ENST00000673991.1:c.2528G>C | ENSP00000501033.1:p.Gly843Ala | |
| ENST00000226760.5:c.2492G>C MANE Select | ENSP00000226760.1:p.Gly831Ala | |
| ENST00000503569.5:c.2492G>C | ENSP00000423337.1:p.Gly831Ala | |
| ENST00000507765.1:n.2677G>C | ||
| NM_001145853.1:c.2492G>C | NP_001139325.1:p.Gly831Ala | |
| NM_006005.3:c.2492G>C MANE Select | NP_005996.2:p.Gly831Ala | |
| XM_017008586.1:c.2501G>C | XP_016864075.1:p.Gly834Ala |