Revel Score:
ENST00000336615 (MANE Select)
0.090
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.824363G>C , CM000673.2:g.824363G>C | GRCh38 |
| NC_000011.9:g.824363G>C , CM000673.1:g.824363G>C | GRCh37 |
| NC_000011.8:g.814363G>C | NCBI36 |
| NG_023394.1:g.10463G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.1102G>C MANE Select | ENSP00000337701.4:p.Glu368Gln | |
| ENST00000336615.8:c.1102G>C | ENSP00000337701.4:p.Glu368Gln | |
| ENST00000525250.5:n.1956G>C | ||
| ENST00000526083.1:n.391G>C | ||
| ENST00000529255.1:n.532G>C | ||
| ENST00000617551.1:c.100G>C | ENSP00000481602.1:p.Glu34Gln | |
| NM_020376.3:c.1102G>C | NP_065109.1:p.Glu368Gln | |
| XM_006718265.2:c.1244G>C | XP_006718328.1:p.Gly415Ala | |
| XM_006718266.2:c.1244G>C | XP_006718329.1:p.Gly415Ala | |
| XM_006718265.3:c.1244G>C | XP_006718328.1:p.Gly415Ala | |
| XM_006718266.3:c.1244G>C | XP_006718329.1:p.Gly415Ala | |
| XM_017018028.1:c.1102G>C | XP_016873517.1:p.Glu368Gln | |
| XM_024448618.1:c.1244G>C | XP_024304386.1:p.Gly415Ala | |
| NM_020376.4:c.1102G>C MANE Select | NP_065109.1:p.Glu368Gln |