Revel Score:
ENST00000263642
0.976
ENST00000543192
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162281524T>C , CM000664.2:g.162281524T>C | GRCh38 |
| NC_000002.11:g.163138034T>C , CM000664.1:g.163138034T>C | GRCh37 |
| NC_000002.10:g.162846280T>C | NCBI36 |
| NG_011495.1:g.42006A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*925A>G | ENSP00000513228.1:n.*925A>G | |
| ENST00000648433.1:c.1328A>G | ENSP00000496816.1:p.Asp443Gly | |
| ENST00000649554.1:n.938A>G | ||
| ENST00000649979.2:c.1328A>G MANE Select | ENSP00000497271.1:p.Asp443Gly | |
| ENST00000679938.1:c.1016A>G | ENSP00000505518.1:p.Asp339Gly | |
| ENST00000263642.2:c.1328A>G | ENSP00000263642.2:p.Asp443Gly | |
| NM_022168.3:c.1328A>G | NP_071451.2:p.Asp443Gly | |
| XM_011511628.1:c.611A>G | XP_011509930.1:p.Asp204Gly | |
| XM_011511629.1:c.1328A>G | XP_011509931.1:p.Asp443Gly | |
| NM_022168.4:c.1328A>G MANE Select | NP_071451.2:p.Asp443Gly |