Revel Score:
ENST00000519097
0.082
ENST00000380036 (MANE Select)
0.082
ENST00000406359
0.082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27202972A>G , CM000671.2:g.27202972A>G | GRCh38 |
| NC_000009.11:g.27202970A>G , CM000671.1:g.27202970A>G | GRCh37 |
| NC_000009.10:g.27192970A>G | NCBI36 |
| NG_011828.1:g.98824A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.2062A>G MANE Select | ENSP00000369375.4:p.Lys688Glu | |
| ENST00000380036.8:c.2062A>G | ENSP00000369375.4:p.Lys688Glu | |
| ENST00000406359.8:c.1933A>G | ENSP00000383977.4:p.Lys645Glu | |
| ENST00000519097.5:c.1621A>G | ENSP00000430686.1:p.Lys541Glu | |
| ENST00000615002.4:c.*563A>G | ENSP00000480251.1:n.*563A>G | |
| NM_000459.4:c.2062A>G | NP_000450.2:p.Lys688Glu | |
| NM_001290077.1:c.1933A>G | NP_001277006.1:p.Lys645Glu | |
| NM_001290078.1:c.1621A>G | NP_001277007.1:p.Lys541Glu | |
| XM_005251561.1:c.2062A>G | XP_005251618.1:p.Lys688Glu | |
| XM_005251563.1:c.1933A>G | XP_005251620.1:p.Lys645Glu | |
| XM_005251561.2:c.2062A>G | XP_005251618.1:p.Lys688Glu | |
| XM_005251563.2:c.1933A>G | XP_005251620.1:p.Lys645Glu | |
| NM_000459.5:c.2062A>G MANE Select | NP_000450.3:p.Lys688Glu | |
| NM_001375475.1:c.2062A>G | NP_001362404.1:p.Lys688Glu | |
| NM_001375476.1:c.1933A>G | NP_001362405.1:p.Lys645Glu |