HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869343G>C , CM000664.2:g.240869343G>C | GRCh38 |
NC_000002.11:g.241808760G>C , CM000664.1:g.241808760G>C | GRCh37 |
NC_000002.10:g.241457433G>C | NCBI36 |
NG_008005.1:g.5599G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.339G>C MANE Select | ENSP00000302620.3:p.Val113= | |
ENST00000307503.3:c.339G>C | ENSP00000302620.3:p.Val113= | |
ENST00000472436.1:n.359G>C | ||
NM_000030.2:c.339G>C | NP_000021.1:p.Val113= | |
XR_924060.1:n.405+890C>G | ||
NM_000030.3:c.339G>C MANE Select | NP_000021.1:p.Val113= |