ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451504A>C , CM000665.2:g.52451504A>C | GRCh38 |
| NC_000003.11:g.52485520A>C , CM000665.1:g.52485520A>C | GRCh37 |
| NC_000003.10:g.52460560A>C | NCBI36 |
| NG_008963.1:g.7538T>G , LRG_378:g.7538T>G | |
| NG_033112.1:g.997A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.341T>G MANE Select | ENSP00000232975.3:p.Leu114Arg | |
| ENST00000232975.7:c.341T>G | ENSP00000232975.3:p.Leu114Arg | |
| ENST00000461086.1:n.272T>G | ||
| ENST00000496590.1:c.209T>G | ENSP00000420596.1:p.Leu70Arg | |
| NM_003280.2:c.341T>G , LRG_378t1:c.341T>G | NP_003271.1:p.Leu114Arg | |
| NM_003280.3:c.341T>G MANE Select | NP_003271.1:p.Leu114Arg |