Revel Score:
ENST00000319555 (MANE Select)
0.040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88534333A>C , CM000678.2:g.88534333A>C | GRCh38 |
| NC_000016.9:g.88600741A>C , CM000678.1:g.88600741A>C | GRCh37 |
| NC_000016.8:g.87128242A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319555.8:c.2375A>C MANE Select | ENSP00000326630.2:p.Asp792Ala | |
| ENST00000319555.7:c.2375A>C | ENSP00000326630.2:p.Asp792Ala | |
| NM_153813.2:c.2375A>C | NP_722520.2:p.Asp792Ala | |
| XM_011522912.1:c.2513A>C | XP_011521214.1:p.Asp838Ala | |
| XM_011522913.1:c.2489A>C | XP_011521215.1:p.Asp830Ala | |
| XM_011522914.1:c.2474A>C | XP_011521216.1:p.Asp825Ala | |
| XM_011522915.1:c.2339A>C | XP_011521217.1:p.Asp780Ala | |
| XM_011522916.1:c.2288A>C | XP_011521218.1:p.Asp763Ala | |
| XM_011522917.1:c.2195A>C | XP_011521219.1:p.Asp732Ala | |
| XM_011522918.1:c.2321A>C | XP_011521220.1:p.Asp774Ala | |
| XM_011522912.2:c.2513A>C | XP_011521214.1:p.Asp838Ala | |
| XM_011522914.2:c.2474A>C | XP_011521216.1:p.Asp825Ala | |
| XM_011522917.2:c.2195A>C | XP_011521219.1:p.Asp732Ala | |
| XM_017022982.1:c.2114A>C | XP_016878471.1:p.Asp705Ala | |
| NM_153813.3:c.2375A>C MANE Select | NP_722520.2:p.Asp792Ala |