Revel Score:
ENST00000269228 (MANE Select)
0.869
ENST00000412552
0.869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23534530G>C , CM000680.2:g.23534530G>C | GRCh38 |
| NC_000018.9:g.21114494G>C , CM000680.1:g.21114494G>C | GRCh37 |
| NC_000018.8:g.19368492G>C | NCBI36 |
| NG_012795.1:g.57088C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.3507C>G MANE Select | ENSP00000269228.4:p.Ser1169Arg | |
| ENST00000269228.9:c.3507C>G | ENSP00000269228.4:p.Ser1169Arg | |
| ENST00000586150.5:c.262C>G | ||
| ENST00000587163.1:n.31C>G | ||
| ENST00000588867.1:n.262C>G | ||
| ENST00000591051.1:c.2585C>G | ||
| ENST00000591107.6:c.184C>G | ||
| NM_000271.4:c.3507C>G | NP_000262.2:p.Ser1169Arg | |
| XM_005258277.1:c.3558C>G | XP_005258334.1:p.Ser1186Arg | |
| XM_005258278.3:c.3558C>G | XP_005258335.1:p.Ser1186Arg | |
| XM_005258279.1:c.3507C>G | XP_005258336.1:p.Ser1169Arg | |
| XM_006722479.2:c.3558C>G | XP_006722542.1:p.Ser1186Arg | |
| XM_011526015.1:c.3093C>G | XP_011524317.1:p.Ser1031Arg | |
| XM_005258278.5:c.3558C>G | XP_005258335.1:p.Ser1186Arg | |
| XM_005258279.2:c.3507C>G | XP_005258336.1:p.Ser1169Arg | |
| XM_006722479.3:c.3558C>G | XP_006722542.1:p.Ser1186Arg | |
| XM_017025784.1:c.3558C>G | XP_016881273.1:p.Ser1186Arg | |
| XM_017025785.1:c.3558C>G | XP_016881274.1:p.Ser1186Arg | |
| XM_017025786.1:c.3507C>G | XP_016881275.1:p.Ser1169Arg | |
| XM_017025787.1:c.3507C>G | XP_016881276.1:p.Ser1169Arg | |
| NM_000271.5:c.3507C>G MANE Select | NP_000262.2:p.Ser1169Arg |