Revel Score:
ENST00000271588 (MANE Select)
0.096
ENST00000367492
0.096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095385T>G , CM000663.2:g.186095385T>G | GRCh38 |
| NC_000001.10:g.186064517T>G , CM000663.1:g.186064517T>G | GRCh37 |
| NC_000001.9:g.184331140T>G | NCBI36 |
| NG_011841.1:g.365835T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10437T>G MANE Select | ENSP00000271588.4:p.Asp3479Glu | |
| ENST00000271588.8:c.10437T>G | ENSP00000271588.4:p.Asp3479Glu | |
| NM_031935.2:c.10437T>G | NP_114141.2:p.Asp3479Glu | |
| XM_011510037.1:c.10152T>G | XP_011508339.1:p.Asp3384Glu | |
| XM_011510038.1:c.10437T>G | XP_011508340.1:p.Asp3479Glu | |
| XM_011510039.1:c.10437T>G | XP_011508341.1:p.Asp3479Glu | |
| XM_011510040.1:c.*85T>G | XP_011508342.1:n.*85T>G | |
| XM_011510038.3:c.10437T>G | XP_011508340.1:p.Asp3479Glu | |
| XM_017002437.1:c.8460T>G | XP_016857926.1:p.Asp2820Glu | |
| XM_024450118.1:c.*85T>G | XP_024305886.1:n.*85T>G | |
| NM_031935.3:c.10437T>G MANE Select | NP_114141.2:p.Asp3479Glu |