Revel Score:
ENST00000396720
0.393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47680512A>C , CM000681.2:g.47680512A>C | GRCh38 |
| NC_000019.9:g.48183769A>C , CM000681.1:g.48183769A>C | GRCh37 |
| NC_000019.8:g.52875581A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594866.3:c.1342A>C MANE Select | ENSP00000469738.2:p.Ser448Arg | |
| ENST00000614245.2:c.616A>C | ENSP00000480219.2:p.Ser206Arg | |
| ENST00000396720.7:c.1342A>C | ENSP00000379946.2:p.Ser448Arg | |
| ENST00000614245.1:c.1186A>C | ENSP00000480219.1:p.Ser396Arg | |
| NM_015711.3:c.1342A>C | NP_056526.3:p.Ser448Arg | |
| XM_005258833.3:c.1342A>C | XP_005258890.1:p.Ser448Arg | |
| XM_006723180.2:c.1342A>C | XP_006723243.1:p.Ser448Arg | |
| XM_011526882.1:c.1204A>C | XP_011525184.1:p.Ser402Arg | |
| XM_011526883.1:c.1342A>C | XP_011525185.1:p.Ser448Arg | |
| XM_005258833.4:c.1342A>C | XP_005258890.1:p.Ser448Arg | |
| XM_006723180.3:c.1342A>C | XP_006723243.1:p.Ser448Arg | |
| XM_011526882.2:c.1204A>C | XP_011525184.1:p.Ser402Arg | |
| XM_011526883.2:c.1342A>C | XP_011525185.1:p.Ser448Arg | |
| NM_001394372.1:c.1342A>C MANE Select | NP_001381301.1:p.Ser448Arg |