HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23416109C= , CM000676.2:g.23416109C= | GRCh38 |
NC_000014.8:g.23885318C= , CM000676.1:g.23885318C= | GRCh37 |
NC_000014.7:g.22955158C= | NCBI36 |
NG_007884.1:g.24553G= , LRG_384:g.24553G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.4848G= (MYH7) MANE Select | ENSP00000347507.3:p.Lys1616= | |
ENST00000355349.3:c.4848G= (MYH7) | ENSP00000347507.3:p.Lys1616= | |
NM_000257.3:c.4848G= (MYH7) | NP_000248.2:p.Lys1616= | |
NR_126491.1:n.370C= (MHRT) | ||
XM_017021340.1:c.4848G= (MYH7) | XP_016876829.1:p.Lys1616= | |
NM_000257.4:c.4848G= (MYH7) MANE Select | NP_000248.2:p.Lys1616= |