HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240873045G>C , CM000664.2:g.240873045G>C | GRCh38 |
NC_000002.11:g.241812462G>C , CM000664.1:g.241812462G>C | GRCh37 |
NC_000002.10:g.241461135G>C | NCBI36 |
NG_008005.1:g.9301G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.591G>C MANE Select | ENSP00000302620.3:p.Arg197= | |
ENST00000307503.3:c.591G>C | ENSP00000302620.3:p.Arg197= | |
ENST00000472436.1:n.611G>C | ||
ENST00000476698.1:n.328G>C | ||
NM_000030.2:c.591G>C | NP_000021.1:p.Arg197= | |
NM_000030.3:c.591G>C MANE Select | NP_000021.1:p.Arg197= |