ClinVar Variation:
Revel Score:
ENST00000398092
0.809
ENST00000256682 (MANE Select)
0.809
ENST00000447318
0.809
ENST00000541959
0.809
ENST00000541236
0.809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48939762C>T , CM000674.2:g.48939762C>T | GRCh38 |
| NC_000012.11:g.49333545C>T , CM000674.1:g.49333545C>T | GRCh37 |
| NC_000012.10:g.47619812C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256682.9:c.277G>A MANE Select | ENSP00000256682.4:p.Asp93Asn | |
| ENST00000256682.8:c.277G>A | ENSP00000256682.4:p.Asp93Asn | |
| ENST00000398092.4:c.277G>A | ENSP00000438507.1:p.Asp93Asn | |
| ENST00000447318.6:c.166G>A | ENSP00000395370.2:p.Asp56Asn | |
| ENST00000485410.5:n.137-915G>A | ||
| ENST00000541236.5:c.277G>A | ENSP00000438063.1:p.Asp93Asn | |
| ENST00000541959.5:c.277G>A | ENSP00000438510.1:p.Asp93Asn | |
| NM_001659.2:c.277G>A | NP_001650.1:p.Asp93Asn | |
| XM_005268856.1:c.277G>A | XP_005268913.1:p.Asp93Asn | |
| XM_006719391.2:c.277G>A | XP_006719454.1:p.Asp93Asn | |
| XM_011538322.1:c.277G>A | XP_011536624.1:p.Asp93Asn | |
| XM_011538323.1:c.277G>A | XP_011536625.1:p.Asp93Asn | |
| XM_006719391.4:c.277G>A | XP_006719454.1:p.Asp93Asn | |
| XM_024448972.1:c.277G>A | XP_024304740.1:p.Asp93Asn | |
| NM_001659.3:c.277G>A MANE Select | NP_001650.1:p.Asp93Asn |