Revel Score:
ENST00000322563 (MANE Select)
0.105
ENST00000531317
0.105
ENST00000447195
0.105
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.76206330C>A , CM000673.2:g.76206330C>A | GRCh38 |
| NC_000011.9:g.75917374C>A , CM000673.1:g.75917374C>A | GRCh37 |
| NC_000011.8:g.75595022C>A | NCBI36 |
| NG_046931.1:g.12679G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322563.8:c.78G>T MANE Select | ENSP00000325526.3:p.Lys26Asn | |
| ENST00000322563.7:c.78G>T | ENSP00000325526.3:p.Lys26Asn | |
| ENST00000621122.1:c.78G>T | ENSP00000483229.1:p.Lys26Asn | |
| NM_004626.2:c.78G>T | NP_004617.2:p.Lys26Asn | |
| XM_005274231.1:c.78G>T | XP_005274288.1:p.Lys26Asn | |
| XM_011545237.1:c.78G>T | XP_011543539.1:p.Lys26Asn | |
| XM_011545238.1:c.78G>T | XP_011543540.1:p.Lys26Asn | |
| XM_011545239.1:c.78G>T | XP_011543541.1:p.Lys26Asn | |
| XM_011545240.1:c.78G>T | XP_011543542.1:p.Lys26Asn | |
| XR_950037.1:n.169G>T | ||
| XM_011545239.2:c.78G>T | XP_011543541.1:p.Lys26Asn | |
| XM_011545240.2:c.78G>T | XP_011543542.1:p.Lys26Asn | |
| XM_024448678.1:c.-266G>T | XP_024304446.1:n.-266G>T | |
| XR_002957190.1:n.251G>T | ||
| NM_004626.3:c.78G>T MANE Select | NP_004617.2:p.Lys26Asn |