Revel Score:
ENST00000326873 (MANE Select)
0.979
ENST00000405031
0.979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220692G>C , CM000681.2:g.1220692G>C | GRCh38 |
| NC_000019.9:g.1220691G>C , CM000681.1:g.1220691G>C | GRCh37 |
| NC_000019.8:g.1171691G>C | NCBI36 |
| NG_007460.2:g.36286G>C , LRG_319:g.36286G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.709G>C | ENSP00000490268.2:p.Asp237His | |
| ENST00000585748.3:c.337G>C | ENSP00000477641.2:p.Asp113His | |
| ENST00000585851.2:c.535G>C | ENSP00000467912.2:p.Asp179His | |
| ENST00000326873.12:c.709G>C MANE Select | ENSP00000324856.6:p.Asp237His | |
| ENST00000652231.1:c.709G>C | ENSP00000498804.1:p.Asp237His | |
| ENST00000326873.11:c.709G>C | ENSP00000324856.6:p.Asp237His | |
| ENST00000586243.5:c.709G>C | ENSP00000467240.2:p.Asp237His | |
| ENST00000586358.5:n.607G>C | ||
| ENST00000589152.5:n.799G>C | ||
| ENST00000591133.2:n.680G>C | ||
| NM_000455.4:c.709G>C , LRG_319t1:c.709G>C | NP_000446.1:p.Asp237His | |
| XM_005259617.1:c.709G>C | XP_005259674.1:p.Asp237His | |
| XM_005259618.3:c.709G>C | XP_005259675.1:p.Asp237His | |
| XM_011528209.1:c.487G>C | XP_011526511.1:p.Asp163His | |
| XR_936204.1:n.1334G>C | ||
| XM_005259617.3:c.709G>C | XP_005259674.1:p.Asp237His | |
| XM_011528209.2:c.487G>C | XP_011526511.1:p.Asp163His | |
| XR_001753738.2:n.1334G>C | ||
| XR_001753739.1:n.1334G>C | ||
| XR_001753740.2:n.1334G>C | ||
| NM_000455.5:c.709G>C MANE Select | NP_000446.1:p.Asp237His |