HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240878805C>T , CM000664.2:g.240878805C>T | GRCh38 |
NC_000002.11:g.241818222C>T , CM000664.1:g.241818222C>T | GRCh37 |
NC_000002.10:g.241466895C>T | NCBI36 |
NG_008005.1:g.15061C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.1163C>T MANE Select | ENSP00000302620.3:p.Pro388Leu | |
ENST00000307503.3:c.1163C>T | ENSP00000302620.3:p.Pro388Leu | |
ENST00000470255.1:n.941C>T | ||
NM_000030.2:c.1163C>T | NP_000021.1:p.Pro388Leu | |
NM_000030.3:c.1163C>T MANE Select | NP_000021.1:p.Pro388Leu |