HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4860240C>T , CM000666.2:g.4860240C>T | GRCh38 |
NC_000004.11:g.4861967C>T , CM000666.1:g.4861967C>T | GRCh37 |
NC_000004.10:g.4912868C>T | NCBI36 |
NG_008121.1:g.5576C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382723.5:c.341C>T MANE Select | ENSP00000372170.4:p.Pro114Leu | |
ENST00000382723.4:c.341C>T | ENSP00000372170.4:p.Pro114Leu | |
NM_002448.3:c.341C>T MANE Select | NP_002439.2:p.Pro114Leu |