ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24955713A>C , CM000670.2:g.24955713A>C | GRCh38 |
| NC_000008.10:g.24813227A>C , CM000670.1:g.24813227A>C | GRCh37 |
| NC_000008.9:g.24869144A>C | NCBI36 |
| NG_008492.1:g.5905T>G , LRG_259:g.5905T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.803T>G MANE Select | ENSP00000482169.2:p.Leu268Arg | |
| ENST00000610854.1:c.803T>G | ENSP00000482169.1:p.Leu268Arg | |
| ENST00000615973.1:n.1009T>G | ||
| ENST00000619417.1:c.593-69T>G | ENSP00000483690.1:n.593-69T>G | |
| NM_006158.4:c.803T>G , LRG_259t1:c.803T>G | NP_006149.2:p.Leu268Arg | |
| NM_006158.5:c.803T>G MANE Select | NP_006149.2:p.Leu268Arg |