HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25004798C= , CM000685.2:g.25004798C= | GRCh38 |
NC_000023.10:g.25022915C= , CM000685.1:g.25022915C= | GRCh37 |
NC_000023.9:g.24932836C= | NCBI36 |
NG_008281.1:g.16151G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.1561G= MANE Select | ENSP00000368332.4:p.Ala521= | |
ENST00000379044.4:c.1561G= | ENSP00000368332.4:p.Ala521= | |
NM_139058.2:c.1561G= | NP_620689.1:p.Ala521= | |
NM_139058.3:c.1561G= MANE Select | NP_620689.1:p.Ala521= |