ClinVar Variation:
dbSNP:
Revel Score:
ENST00000553106 (MANE Select)
0.969
ENST00000307000
0.969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844356A>C , CM000674.2:g.102844356A>C | GRCh38 |
| NC_000012.11:g.103238134A>C , CM000674.1:g.103238134A>C | GRCh37 |
| NC_000012.10:g.101762264A>C | NCBI36 |
| NG_008690.1:g.78247T>G | |
| NG_008690.2:g.119055T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1045T>G MANE Select | ENSP00000448059.1:p.Ser349Ala | |
| ENST00000307000.7:c.1030T>G | ENSP00000303500.2:p.Ser344Ala | |
| ENST00000549247.6:n.804T>G | ||
| ENST00000551114.2:n.707T>G | ||
| ENST00000553106.5:c.1045T>G | ENSP00000448059.1:p.Ser349Ala | |
| ENST00000635477.1:c.149T>G | ||
| ENST00000635528.1:n.560T>G | ||
| NM_000277.1:c.1045T>G | NP_000268.1:p.Ser349Ala | |
| XM_011538422.1:c.988T>G | XP_011536724.1:p.Ser330Ala | |
| NM_000277.2:c.1045T>G | NP_000268.1:p.Ser349Ala | |
| NM_001354304.1:c.1045T>G | NP_001341233.1:p.Ser349Ala | |
| NM_000277.3:c.1045T>G MANE Select | NP_000268.1:p.Ser349Ala | |
| NM_001354304.2:c.1045T>G | NP_001341233.1:p.Ser349Ala |