Revel Score:
ENST00000261883 (MANE Select)
0.098
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65197350T>G , CM000677.2:g.65197350T>G | GRCh38 |
| NC_000015.9:g.65489688T>G , CM000677.1:g.65489688T>G | GRCh37 |
| NC_000015.8:g.63276741T>G | NCBI36 |
| NG_012214.1:g.19153A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261883.6:c.2936A>C MANE Select | ENSP00000261883.4:p.Gln979Pro | |
| ENST00000261883.5:c.2936A>C | ENSP00000261883.4:p.Gln979Pro | |
| NM_003613.3:c.2936A>C | NP_003604.3:p.Gln979Pro | |
| XM_017022678.2:c.3017A>C | XP_016878167.1:p.Gln1006Pro | |
| XM_017022679.1:c.2864A>C | XP_016878168.1:p.Gln955Pro | |
| NM_003613.4:c.2936A>C MANE Select | NP_003604.4:p.Gln979Pro |