Revel Score:
ENST00000261978 (MANE Select)
0.297
ENST00000556690
0.297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74502911C>A , CM000676.2:g.74502911C>A | GRCh38 |
| NC_000014.8:g.74969614C>A , CM000676.1:g.74969614C>A | GRCh37 |
| NC_000014.7:g.74039367C>A | NCBI36 |
| NG_021486.1:g.114421G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.4912G>T MANE Select | ENSP00000261978.4:p.Val1638Leu | |
| ENST00000261978.8:c.4912G>T | ENSP00000261978.4:p.Val1638Leu | |
| ENST00000553939.5:c.4912G>T | ENSP00000452110.1:p.Val1638Leu | |
| ENST00000556690.5:c.4780G>T | ENSP00000451477.1:p.Val1594Leu | |
| NM_000428.2:c.4912G>T | NP_000419.1:p.Val1638Leu | |
| XM_011536765.1:c.4531G>T | XP_011535067.1:p.Val1511Leu | |
| XM_011536766.1:c.4453G>T | XP_011535068.1:p.Val1485Leu | |
| XM_011536767.1:c.4429G>T | XP_011535069.1:p.Val1477Leu | |
| XM_011536765.2:c.4531G>T | XP_011535067.1:p.Val1511Leu | |
| NM_000428.3:c.4912G>T MANE Select | NP_000419.1:p.Val1638Leu |