Revel Score:
ENST00000274793 (MANE Select)
0.169
ENST00000537365
0.169
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.46705206A>T , CM000668.2:g.46705206A>T | GRCh38 |
| NC_000006.11:g.46672943A>T , CM000668.1:g.46672943A>T | GRCh37 |
| NC_000006.10:g.46780902A>T | NCBI36 |
| NG_016204.1:g.35488T>A | |
| NG_051941.1:g.29939A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274793.12:c.1136T>A MANE Select | ENSP00000274793.7:p.Val379Glu | |
| ENST00000274793.11:c.1136T>A | ENSP00000274793.7:p.Val379Glu | |
| ENST00000537365.1:c.1136T>A | ENSP00000445666.1:p.Val379Glu | |
| NM_001168357.1:c.1136T>A | NP_001161829.1:p.Val379Glu | |
| NM_005084.3:c.1136T>A | NP_005075.3:p.Val379Glu | |
| XM_005249408.3:c.1136T>A | XP_005249465.1:p.Val379Glu | |
| XM_005249408.4:c.1136T>A | XP_005249465.1:p.Val379Glu | |
| XR_001743639.2:n.1290T>A | ||
| XR_002956305.1:n.3472T>A | ||
| NM_005084.4:c.1136T>A MANE Select | NP_005075.3:p.Val379Glu | |
| NM_001168357.2:c.1136T>A | NP_001161829.1:p.Val379Glu |