Revel Score:
ENST00000263816
0.238
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169196995C>G , CM000664.2:g.169196995C>G | GRCh38 |
| NC_000002.11:g.170053505C>G , CM000664.1:g.170053505C>G | GRCh37 |
| NC_000002.10:g.169761751C>G | NCBI36 |
| NG_012634.1:g.170618G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.8614G>C MANE Select | ENSP00000496870.1:p.Ala2872Pro | |
| ENST00000263816.7:c.8614G>C | ENSP00000263816.3:p.Ala2872Pro | |
| NM_004525.2:c.8614G>C | NP_004516.2:p.Ala2872Pro | |
| XM_011511183.1:c.8614G>C | XP_011509485.1:p.Ala2872Pro | |
| XM_011511184.1:c.6325G>C | XP_011509486.1:p.Ala2109Pro | |
| XM_011511185.1:c.8614G>C | XP_011509487.1:p.Ala2872Pro | |
| NM_004525.3:c.8614G>C MANE Select | NP_004516.2:p.Ala2872Pro | |
| XM_011511183.3:c.8614G>C | XP_011509485.1:p.Ala2872Pro | |
| XM_011511184.2:c.6325G>C | XP_011509486.1:p.Ala2109Pro |