Revel Score:
ENST00000269228 (MANE Select)
0.817
ENST00000412552
0.817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23533470C>G , CM000680.2:g.23533470C>G | GRCh38 |
| NC_000018.9:g.21113434C>G , CM000680.1:g.21113434C>G | GRCh37 |
| NC_000018.8:g.19367432C>G | NCBI36 |
| NG_012795.1:g.58148G>C | |
| NG_033119.1:g.35001C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.3639G>C MANE Select | ENSP00000269228.4:p.Leu1213Phe | |
| ENST00000269228.9:c.3639G>C | ENSP00000269228.4:p.Leu1213Phe | |
| ENST00000586150.5:c.394G>C | ||
| ENST00000587163.1:n.163G>C | ||
| ENST00000588867.1:n.1322G>C | ||
| ENST00000590723.5:c.48G>C | ENSP00000464755.1:p.Leu16Phe | |
| ENST00000591051.1:c.2717G>C | ||
| ENST00000591107.6:c.316G>C | ||
| NM_000271.4:c.3639G>C | NP_000262.2:p.Leu1213Phe | |
| XM_005258277.1:c.3690G>C | XP_005258334.1:p.Leu1230Phe | |
| XM_005258278.3:c.3690G>C | XP_005258335.1:p.Leu1230Phe | |
| XM_005258279.1:c.3639G>C | XP_005258336.1:p.Leu1213Phe | |
| XM_006722479.2:c.3690G>C | XP_006722542.1:p.Leu1230Phe | |
| XM_011526015.1:c.3225G>C | XP_011524317.1:p.Leu1075Phe | |
| XM_005258278.5:c.3690G>C | XP_005258335.1:p.Leu1230Phe | |
| XM_005258279.2:c.3639G>C | XP_005258336.1:p.Leu1213Phe | |
| XM_006722479.3:c.3690G>C | XP_006722542.1:p.Leu1230Phe | |
| XM_017025784.1:c.3690G>C | XP_016881273.1:p.Leu1230Phe | |
| XM_017025785.1:c.3690G>C | XP_016881274.1:p.Leu1230Phe | |
| XM_017025786.1:c.3639G>C | XP_016881275.1:p.Leu1213Phe | |
| XM_017025787.1:c.3639G>C | XP_016881276.1:p.Leu1213Phe | |
| NM_000271.5:c.3639G>C MANE Select | NP_000262.2:p.Leu1213Phe |