HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44456682T>G , CM000683.2:g.44456682T>G | GRCh38 |
NC_000021.8:g.45876565T>G , CM000683.1:g.45876565T>G | GRCh37 |
NC_000021.7:g.44700993T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291592.6:c.38T>G MANE Select | ENSP00000291592.4:p.Leu13Arg | |
ENST00000291592.5:c.38T>G | ENSP00000291592.4:p.Leu13Arg | |
NM_030891.4:c.38T>G | NP_112153.1:p.Leu13Arg | |
NM_030891.5:c.38T>G | NP_112153.1:p.Leu13Arg | |
NM_030891.6:c.38T>G MANE Select | NP_112153.1:p.Leu13Arg |