HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25013548C>T , CM000685.2:g.25013548C>T | GRCh38 |
NC_000023.10:g.25031665C>T , CM000685.1:g.25031665C>T | GRCh37 |
NC_000023.9:g.24941586C>T | NCBI36 |
NG_008281.1:g.7401G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379044.5:c.447G>A MANE Select | ENSP00000368332.4:p.Ala149= | |
ENST00000379044.4:c.447G>A | ENSP00000368332.4:p.Ala149= | |
NM_139058.2:c.447G>A | NP_620689.1:p.Ala149= | |
NM_139058.3:c.447G>A MANE Select | NP_620689.1:p.Ala149= |