HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23416258G>C , CM000676.2:g.23416258G>C | GRCh38 |
NC_000014.8:g.23885467G>C , CM000676.1:g.23885467G>C | GRCh37 |
NC_000014.7:g.22955307G>C | NCBI36 |
NG_007884.1:g.24404C>G , LRG_384:g.24404C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.4699C>G (MYH7) MANE Select | ENSP00000347507.3:p.Gln1567Glu | |
ENST00000355349.3:c.4699C>G (MYH7) | ENSP00000347507.3:p.Gln1567Glu | |
NM_000257.3:c.4699C>G (MYH7) | NP_000248.2:p.Gln1567Glu | |
NR_126491.1:n.519G>C (MHRT) | ||
XM_017021340.1:c.4699C>G (MYH7) | XP_016876829.1:p.Gln1567Glu | |
NM_000257.4:c.4699C>G (MYH7) MANE Select | NP_000248.2:p.Gln1567Glu |