Revel Score:
ENST00000219070 (MANE Select)
0.130
ENST00000543485
0.130
ENST00000437642
0.130
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55489793T>A , CM000678.2:g.55489793T>A | GRCh38 |
| NC_000016.9:g.55523705T>A , CM000678.1:g.55523705T>A | GRCh37 |
| NC_000016.8:g.54081206T>A | NCBI36 |
| NG_008989.1:g.15625T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219070.9:c.1149T>A MANE Select | ENSP00000219070.4:p.Asp383Glu | |
| ENST00000219070.8:c.1149T>A | ENSP00000219070.4:p.Asp383Glu | |
| ENST00000437642.6:c.999T>A | ENSP00000394237.2:p.Asp333Glu | |
| ENST00000543485.5:c.921T>A | ENSP00000444143.1:p.Asp307Glu | |
| ENST00000570283.1:c.55+1077T>A | ENSP00000456518.1:n.55+1077T>A | |
| ENST00000570308.5:c.921T>A | ENSP00000461421.1:p.Asp307Glu | |
| NM_001127891.2:c.999T>A | NP_001121363.1:p.Asp333Glu | |
| NM_001302508.1:c.921T>A | NP_001289437.1:p.Asp307Glu | |
| NM_001302509.1:c.921T>A | NP_001289438.1:p.Asp307Glu | |
| NM_001302510.1:c.921T>A | NP_001289439.1:p.Asp307Glu | |
| NM_004530.5:c.1149T>A | NP_004521.1:p.Asp383Glu | |
| NM_004530.6:c.1149T>A MANE Select | NP_004521.1:p.Asp383Glu | |
| NM_001127891.3:c.999T>A | NP_001121363.1:p.Asp333Glu | |
| NM_001302509.2:c.921T>A | NP_001289438.1:p.Asp307Glu | |
| NM_001302510.2:c.921T>A | NP_001289439.1:p.Asp307Glu |