HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869308G>C , CM000664.2:g.240869308G>C | GRCh38 |
NC_000002.11:g.241808725G>C , CM000664.1:g.241808725G>C | GRCh37 |
NC_000002.10:g.241457398G>C | NCBI36 |
NG_008005.1:g.5564G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.304G>C MANE Select | ENSP00000302620.3:p.Val102Leu | |
ENST00000307503.3:c.304G>C | ENSP00000302620.3:p.Val102Leu | |
ENST00000472436.1:n.324G>C | ||
NM_000030.2:c.304G>C | NP_000021.1:p.Val102Leu | |
XR_924060.1:n.405+925C>G | ||
NM_000030.3:c.304G>C MANE Select | NP_000021.1:p.Val102Leu |