Revel Score:
ENST00000356495 (MANE Select)
0.008
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206933133G>C , CM000663.2:g.206933133G>C | GRCh38 |
| NC_000001.10:g.207106478G>C , CM000663.1:g.207106478G>C | GRCh37 |
| NC_000001.9:g.205173101G>C | NCBI36 |
| NG_012927.1:g.18334C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356495.5:c.1739C>G MANE Select | ENSP00000348888.4:p.Ala580Gly | |
| ENST00000356495.4:c.1739C>G | ENSP00000348888.4:p.Ala580Gly | |
| NM_002644.3:c.1739C>G | NP_002635.2:p.Ala580Gly | |
| XM_011509629.1:c.1739C>G | XP_011507931.1:p.Ala580Gly | |
| NM_002644.4:c.1739C>G MANE Select | NP_002635.2:p.Ala580Gly |