Revel Score:
ENST00000320248 (MANE Select)
0.778
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2002280T>G , CM000670.2:g.2002280T>G | GRCh38 |
| NC_000008.10:g.1950446T>G , CM000670.1:g.1950446T>G | GRCh37 |
| NC_000008.9:g.1937853T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320248.4:c.1088T>G MANE Select | ENSP00000321544.3:p.Val363Gly | |
| ENST00000320248.3:c.1088T>G | ENSP00000321544.3:p.Val363Gly | |
| NM_014867.2:c.1088T>G | NP_055682.1:p.Val363Gly | |
| XM_005266045.2:c.1088T>G | XP_005266102.1:p.Val363Gly | |
| XM_011534771.1:c.1088T>G | XP_011533073.1:p.Val363Gly | |
| XM_011534772.1:c.1088T>G | XP_011533074.1:p.Val363Gly | |
| XM_011534771.2:c.1088T>G | XP_011533073.1:p.Val363Gly | |
| XM_011534772.2:c.1088T>G | XP_011533074.1:p.Val363Gly | |
| XM_017014114.2:c.1088T>G | XP_016869603.1:p.Val363Gly | |
| XM_017014115.2:c.1088T>G | XP_016869604.1:p.Val363Gly | |
| XM_017014116.1:c.1088T>G | XP_016869605.1:p.Val363Gly | |
| XM_017014117.2:c.1088T>G | XP_016869606.1:p.Val363Gly | |
| NM_014867.3:c.1088T>G MANE Select | NP_055682.1:p.Val363Gly |