Revel Score:
ENST00000540367
0.600
ENST00000376618
0.600
ENST00000265641 (MANE Select)
0.600
ENST00000538308
0.600
ENST00000539743
0.600
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68794860C>G , CM000673.2:g.68794860C>G | GRCh38 |
| NC_000011.9:g.68562328C>G , CM000673.1:g.68562328C>G | GRCh37 |
| NC_000011.8:g.68318904C>G | NCBI36 |
| NG_011801.1:g.52072G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.823G>C MANE Select | ENSP00000265641.4:p.Ala275Pro | |
| ENST00000265641.9:c.823G>C | ENSP00000265641.4:p.Ala275Pro | |
| ENST00000376618.6:c.823G>C | ENSP00000365803.2:p.Ala275Pro | |
| ENST00000538994.1:c.79G>C | ENSP00000454332.1:p.Ala27Pro | |
| ENST00000539743.5:c.823G>C | ENSP00000446108.1:p.Ala275Pro | |
| ENST00000540367.5:c.823G>C | ENSP00000439084.1:p.Ala275Pro | |
| NM_001031847.2:c.823G>C | NP_001027017.1:p.Ala275Pro | |
| NM_001876.3:c.823G>C | NP_001867.2:p.Ala275Pro | |
| XM_005273762.1:c.919G>C | XP_005273819.1:p.Ala307Pro | |
| XM_005273763.1:c.919G>C | XP_005273820.1:p.Ala307Pro | |
| XM_005273762.3:c.919G>C | XP_005273819.1:p.Ala307Pro | |
| XM_017017220.1:c.823G>C | XP_016872709.1:p.Ala275Pro | |
| NM_001876.4:c.823G>C MANE Select | NP_001867.2:p.Ala275Pro | |
| NM_001031847.3:c.823G>C | NP_001027017.1:p.Ala275Pro |