Revel Score:
ENST00000311856 (MANE Select)
0.072
ENST00000450935
0.072
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38266188G>C , CM000665.2:g.38266188G>C | GRCh38 |
| NC_000003.11:g.38307679G>C , CM000665.1:g.38307679G>C | GRCh37 |
| NC_000003.10:g.38282683G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311856.9:c.328G>C MANE Select | ENSP00000310241.3:p.Asp110His | |
| ENST00000311856.8:c.328G>C | ENSP00000310241.3:p.Asp110His | |
| ENST00000415844.1:c.283G>C | ENSP00000395106.1:p.Asp95His | |
| NM_004256.3:c.328G>C | NP_004247.2:p.Asp110His | |
| XM_017007519.1:c.-229G>C | XP_016863008.1:n.-229G>C | |
| XR_001740370.1:n.377G>C | ||
| NM_004256.4:c.328G>C MANE Select | NP_004247.2:p.Asp110His |