Revel Score:
ENST00000207549 (MANE Select)
0.115
ENST00000412096
0.115
ENST00000448606
0.115
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75835410T>G , CM000679.2:g.75835410T>G | GRCh38 |
| NC_000017.10:g.73831491T>G , CM000679.1:g.73831491T>G | GRCh37 |
| NC_000017.9:g.71343086T>G | NCBI36 |
| NG_007266.1:g.14308A>C , LRG_122:g.14308A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699510.1:c.782A>C | ENSP00000514405.1:p.Glu261Ala | |
| ENST00000207549.9:c.1847A>C MANE Select | ENSP00000207549.3:p.Glu616Ala | |
| ENST00000207549.8:c.1847A>C | ENSP00000207549.3:p.Glu616Ala | |
| ENST00000412096.6:c.1847A>C | ENSP00000388093.1:p.Glu616Ala | |
| ENST00000591563.5:n.2117A>C | ||
| NM_199242.2:c.1847A>C , LRG_122t1:c.1847A>C | NP_954712.1:p.Glu616Ala | |
| XM_011524504.1:c.1847A>C | XP_011522806.1:p.Glu616Ala | |
| XM_011524505.1:c.1847A>C | XP_011522807.1:p.Glu616Ala | |
| XM_011524506.1:c.1844A>C | XP_011522808.1:p.Glu615Ala | |
| XM_011524507.1:c.1238A>C | XP_011522809.1:p.Glu413Ala | |
| XM_011524508.1:c.1238A>C | XP_011522810.1:p.Glu413Ala | |
| XM_011524504.2:c.1847A>C | XP_011522806.1:p.Glu616Ala | |
| XM_011524507.2:c.1238A>C | XP_011522809.1:p.Glu413Ala | |
| XM_024450640.1:c.1238A>C | XP_024306408.1:p.Glu413Ala | |
| NM_199242.3:c.1847A>C MANE Select | NP_954712.1:p.Glu616Ala |