Revel Score:
ENST00000553106 (MANE Select)
0.593
ENST00000307000
0.593
ENST00000551337
0.593
ENST00000546844
0.593
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912807A>G , CM000674.2:g.102912807A>G | GRCh38 |
| NC_000012.11:g.103306585A>G , CM000674.1:g.103306585A>G | GRCh37 |
| NC_000012.10:g.101830715A>G | NCBI36 |
| NG_008690.1:g.9796T>C | |
| NG_008690.2:g.50604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.152T>C MANE Select | ENSP00000448059.1:p.Val51Ala | |
| ENST00000307000.7:c.137T>C | ENSP00000303500.2:p.Val46Ala | |
| ENST00000546844.1:c.152T>C | ENSP00000446658.1:p.Val51Ala | |
| ENST00000548677.2:n.239T>C | ||
| ENST00000548928.1:n.74T>C | ||
| ENST00000549111.5:n.248T>C | ||
| ENST00000550978.6:c.136T>C | ||
| ENST00000551337.5:c.152T>C | ENSP00000447620.1:p.Val51Ala | |
| ENST00000551988.5:n.241T>C | ||
| ENST00000553106.5:c.152T>C | ENSP00000448059.1:p.Val51Ala | |
| ENST00000635500.1:n.120T>C | ||
| NM_000277.1:c.152T>C | NP_000268.1:p.Val51Ala | |
| XM_011538422.1:c.152T>C | XP_011536724.1:p.Val51Ala | |
| NM_000277.2:c.152T>C | NP_000268.1:p.Val51Ala | |
| NM_001354304.1:c.152T>C | NP_001341233.1:p.Val51Ala | |
| XM_017019370.2:c.152T>C | XP_016874859.1:p.Val51Ala | |
| NM_000277.3:c.152T>C MANE Select | NP_000268.1:p.Val51Ala | |
| NM_001354304.2:c.152T>C | NP_001341233.1:p.Val51Ala |