ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000296387 (MANE Select)
0.964
ENST00000539749
0.964
ENST00000372539
0.964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42738540A>G , CM000663.2:g.42738540A>G | GRCh38 |
| NC_000001.10:g.43204211A>G , CM000663.1:g.43204211A>G | GRCh37 |
| NC_000001.9:g.42976798A>G | NCBI36 |
| NG_008993.1:g.6715T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.269T>C MANE Select | ENSP00000296387.1:p.Leu90Pro | |
| ENST00000296387.5:c.269T>C | ENSP00000296387.1:p.Leu90Pro | |
| ENST00000372539.3:c.269T>C | ENSP00000361617.3:p.Leu90Pro | |
| ENST00000539749.5:c.269T>C | ENSP00000443229.1:p.Leu90Pro | |
| NM_001123395.1:c.269T>C | NP_001116867.1:p.Leu90Pro | |
| NM_001185117.1:c.269T>C | NP_001172046.1:p.Leu90Pro | |
| NM_148960.2:c.269T>C | NP_683763.2:p.Leu90Pro | |
| NM_001123395.2:c.269T>C | NP_001116867.1:p.Leu90Pro | |
| NM_148960.3:c.269T>C MANE Select | NP_683763.2:p.Leu90Pro | |
| NM_001185117.2:c.269T>C | NP_001172046.1:p.Leu90Pro |