HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869173A>C , CM000664.2:g.240869173A>C | GRCh38 |
NC_000002.11:g.241808590A>C , CM000664.1:g.241808590A>C | GRCh37 |
NC_000002.10:g.241457263A>C | NCBI36 |
NG_008005.1:g.5429A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.169A>C MANE Select | ENSP00000302620.3:p.Met57Leu | |
ENST00000307503.3:c.169A>C | ENSP00000302620.3:p.Met57Leu | |
ENST00000472436.1:n.189A>C | ||
NM_000030.2:c.169A>C | NP_000021.1:p.Met57Leu | |
XR_924060.1:n.405+1060T>G | ||
NM_000030.3:c.169A>C MANE Select | NP_000021.1:p.Met57Leu |