Revel Score:
ENST00000261883 (MANE Select)
0.041
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65197350T>A , CM000677.2:g.65197350T>A | GRCh38 |
| NC_000015.9:g.65489688T>A , CM000677.1:g.65489688T>A | GRCh37 |
| NC_000015.8:g.63276741T>A | NCBI36 |
| NG_012214.1:g.19153A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261883.6:c.2936A>T MANE Select | ENSP00000261883.4:p.Gln979Leu | |
| ENST00000261883.5:c.2936A>T | ENSP00000261883.4:p.Gln979Leu | |
| NM_003613.3:c.2936A>T | NP_003604.3:p.Gln979Leu | |
| XM_017022678.2:c.3017A>T | XP_016878167.1:p.Gln1006Leu | |
| XM_017022679.1:c.2864A>T | XP_016878168.1:p.Gln955Leu | |
| NM_003613.4:c.2936A>T MANE Select | NP_003604.4:p.Gln979Leu |