HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23415877T>G , CM000676.2:g.23415877T>G | GRCh38 |
NC_000014.8:g.23885086T>G , CM000676.1:g.23885086T>G | GRCh37 |
NC_000014.7:g.22954926T>G | NCBI36 |
NG_007884.1:g.24785A>C , LRG_384:g.24785A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.4954-45A>C (MYH7) MANE Select | ENSP00000347507.3:n.4954-45A>C | |
ENST00000355349.3:c.4954-45A>C (MYH7) | ENSP00000347507.3:n.4954-45A>C | |
NM_000257.3:c.4954-45A>C (MYH7) | NP_000248.2:n.4954-45A>C | |
NR_126491.1:n.261+48T>G (MHRT) | ||
XM_017021340.1:c.4954-45A>C (MYH7) | XP_016876829.1:n.4954-45A>C | |
NM_000257.4:c.4954-45A>C (MYH7) MANE Select | NP_000248.2:n.4954-45A>C |