Revel Score:
ENST00000311895 (MANE Select)
0.469
ENST00000389138
0.469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948066G>C , CM000678.2:g.13948066G>C | GRCh38 |
| NC_000016.9:g.14041923G>C , CM000678.1:g.14041923G>C | GRCh37 |
| NC_000016.8:g.13949424G>C | NCBI36 |
| NG_011442.1:g.32910G>C , LRG_463:g.32910G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2608G>C | ENSP00000507912.1:p.Asp870His | |
| ENST00000683962.1:c.*2164G>C | ENSP00000506854.1:n.*2164G>C | |
| ENST00000311895.8:c.2470G>C MANE Select | ENSP00000310520.7:p.Asp824His | |
| ENST00000311895.7:c.2470G>C | ENSP00000310520.7:p.Asp824His | |
| ENST00000389138.7:n.1747G>C | ||
| NM_005236.2:c.2470G>C , LRG_463t1:c.2470G>C | NP_005227.1:p.Asp824His | |
| XM_011522424.1:c.2608G>C | XP_011520726.1:p.Asp870His | |
| XM_011522425.1:c.1927G>C | XP_011520727.1:p.Asp643His | |
| XM_011522426.1:c.1681G>C | XP_011520728.1:p.Asp561His | |
| XM_011522427.1:c.1120G>C | XP_011520729.1:p.Asp374His | |
| XR_932805.1:n.2629G>C | ||
| XM_011522424.3:c.2608G>C | XP_011520726.1:p.Asp870His | |
| XM_017023043.2:c.1681G>C | XP_016878532.1:p.Asp561His | |
| NM_005236.3:c.2470G>C MANE Select | NP_005227.1:p.Asp824His |