Revel Score:
ENST00000553106 (MANE Select)
0.927
ENST00000307000
0.927
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846899G>A , CM000674.2:g.102846899G>A | GRCh38 |
| NC_000012.11:g.103240677G>A , CM000674.1:g.103240677G>A | GRCh37 |
| NC_000012.10:g.101764807G>A | NCBI36 |
| NG_008690.1:g.75704C>T | |
| NG_008690.2:g.116512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.965C>T MANE Select | ENSP00000448059.1:p.Ala322Val | |
| ENST00000307000.7:c.950C>T | ENSP00000303500.2:p.Ala317Val | |
| ENST00000549247.6:n.724C>T | ||
| ENST00000551114.2:n.627C>T | ||
| ENST00000553106.5:c.965C>T | ENSP00000448059.1:p.Ala322Val | |
| ENST00000635477.1:c.74-2468C>T | ||
| ENST00000635528.1:n.480C>T | ||
| NM_000277.1:c.965C>T | NP_000268.1:p.Ala322Val | |
| XM_011538422.1:c.913-2468C>T | XP_011536724.1:n.913-2468C>T | |
| NM_000277.2:c.965C>T | NP_000268.1:p.Ala322Val | |
| NM_001354304.1:c.965C>T | NP_001341233.1:p.Ala322Val | |
| NM_000277.3:c.965C>T MANE Select | NP_000268.1:p.Ala322Val | |
| NM_001354304.2:c.965C>T | NP_001341233.1:p.Ala322Val |