Revel Score:
ENST00000367975 (MANE Select)
0.710
ENST00000342751
0.710
ENST00000432287
0.710
ENST00000513009
0.710
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161323642C>G , CM000663.2:g.161323642C>G | GRCh38 |
| NC_000001.10:g.161293432C>G , CM000663.1:g.161293432C>G | GRCh37 |
| NC_000001.9:g.159560056C>G | NCBI36 |
| NG_012767.1:g.14267C>G , LRG_317:g.14267C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.49C>G | ENSP00000482902.2:p.His17Asp | |
| ENST00000367975.7:c.49C>G MANE Select | ENSP00000356953.3:p.His17Asp | |
| ENST00000342751.8:c.49C>G | ENSP00000356952.3:p.His17Asp | |
| ENST00000367975.6:c.49C>G | ENSP00000356953.2:p.His17Asp | |
| ENST00000392169.6:c.20+9217C>G | ENSP00000376009.2:n.20+9217C>G | |
| ENST00000432287.6:c.49C>G | ENSP00000390558.2:p.His17Asp | |
| ENST00000470743.4:c.29C>G | ||
| ENST00000504963.5:c.49C>G | ENSP00000423929.1:p.His17Asp | |
| ENST00000513009.5:c.49C>G | ENSP00000423260.1:p.His17Asp | |
| ENST00000515731.1:n.523C>G | ||
| NM_001035511.1:c.49C>G | NP_001030588.1:p.His17Asp | |
| NM_001035512.1:c.49C>G | NP_001030589.1:p.His17Asp | |
| NM_001035513.1:c.20+9217C>G | NP_001030590.1:n.20+9217C>G | |
| NM_001278172.1:c.49C>G | NP_001265101.1:p.His17Asp | |
| NM_003001.3:c.49C>G , LRG_317t1:c.49C>G | NP_002992.1:p.His17Asp | |
| NR_103459.1:n.79C>G | ||
| NM_001035511.2:c.49C>G | NP_001030588.1:p.His17Asp | |
| NM_001035512.2:c.49C>G | NP_001030589.1:p.His17Asp | |
| NM_001035513.2:c.20+9217C>G | NP_001030590.1:n.20+9217C>G | |
| NM_001278172.2:c.49C>G | NP_001265101.1:p.His17Asp | |
| NM_003001.5:c.49C>G MANE Select | NP_002992.1:p.His17Asp | |
| NR_103459.2:n.74C>G |