HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23417158A>G , CM000676.2:g.23417158A>G | GRCh38 |
NC_000014.8:g.23886367A>G , CM000676.1:g.23886367A>G | GRCh37 |
NC_000014.7:g.22956207A>G | NCBI36 |
NG_007884.1:g.23504T>C , LRG_384:g.23504T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.4514T>C (MYH7) MANE Select | ENSP00000347507.3:p.Leu1505Pro | |
ENST00000355349.3:c.4514T>C (MYH7) | ENSP00000347507.3:p.Leu1505Pro | |
NM_000257.3:c.4514T>C (MYH7) | NP_000248.2:p.Leu1505Pro | |
NR_126491.1:n.652-54A>G (MHRT) | ||
XM_017021340.1:c.4514T>C (MYH7) | XP_016876829.1:p.Leu1505Pro | |
NM_000257.4:c.4514T>C (MYH7) MANE Select | NP_000248.2:p.Leu1505Pro |