HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145970C>A , CM000670.2:g.38145970C>A | GRCh38 |
NC_000008.10:g.38003488C>A , CM000670.1:g.38003488C>A | GRCh37 |
NC_000008.9:g.38122645C>A | NCBI36 |
NG_011827.1:g.10113G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000276449.9:c.643G>T MANE Select | ENSP00000276449.3:p.Val215Phe | |
ENST00000276449.8:c.643G>T | ENSP00000276449.3:p.Val215Phe | |
ENST00000520114.1:n.1130G>T | ||
ENST00000522050.1:c.579G>T | ||
NM_000349.2:c.643G>T | NP_000340.2:p.Val215Phe | |
XM_006716392.1:c.643G>T | XP_006716455.1:p.Val215Phe | |
NM_000349.3:c.643G>T MANE Select | NP_000340.2:p.Val215Phe |