HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23416031T>C , CM000676.2:g.23416031T>C | GRCh38 |
NC_000014.8:g.23885240T>C , CM000676.1:g.23885240T>C | GRCh37 |
NC_000014.7:g.22955080T>C | NCBI36 |
NG_007884.1:g.24631A>G , LRG_384:g.24631A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000355349.4:c.4926A>G (MYH7) MANE Select | ENSP00000347507.3:p.Gln1642= | |
ENST00000355349.3:c.4926A>G (MYH7) | ENSP00000347507.3:p.Gln1642= | |
NM_000257.3:c.4926A>G (MYH7) | NP_000248.2:p.Gln1642= | |
NR_126491.1:n.292T>C (MHRT) | ||
XM_017021340.1:c.4926A>G (MYH7) | XP_016876829.1:p.Gln1642= | |
NM_000257.4:c.4926A>G (MYH7) MANE Select | NP_000248.2:p.Gln1642= |