Revel Score:
ENST00000344327 (MANE Select)
0.532
ENST00000532133
0.532
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101489019G>T , CM000673.2:g.101489019G>T | GRCh38 |
| NC_000011.9:g.101359750G>T , CM000673.1:g.101359750G>T | GRCh37 |
| NC_000011.8:g.100864960G>T | NCBI36 |
| NG_011476.1:g.99910C>A | |
| NG_011476.2:g.99910C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.1211C>A MANE Select | ENSP00000340913.3:p.Ala404Glu | |
| ENST00000344327.7:c.1211C>A | ENSP00000340913.3:p.Ala404Glu | |
| ENST00000348423.8:c.946-5854C>A | ENSP00000343672.4:n.946-5854C>A | |
| ENST00000360497.4:c.1128+2537C>A | ENSP00000353687.4:n.1128+2537C>A | |
| ENST00000532133.5:c.1211C>A | ENSP00000435574.1:p.Ala404Glu | |
| NM_004621.5:c.1211C>A | NP_004612.2:p.Ala404Glu | |
| XM_006718898.2:c.1211C>A | XP_006718961.1:p.Ala404Glu | |
| XM_011542968.1:c.1046C>A | XP_011541270.1:p.Ala349Glu | |
| XM_011542969.1:c.1211C>A | XP_011541271.1:p.Ala404Glu | |
| XM_011542968.3:c.1046C>A | XP_011541270.1:p.Ala349Glu | |
| XM_017018221.2:c.946-5854C>A | XP_016873710.1:n.946-5854C>A | |
| XR_001747948.2:n.1567C>A | ||
| NM_004621.6:c.1211C>A MANE Select | NP_004612.2:p.Ala404Glu |