HGVS | Genome Assembly |
---|---|
NC_000017.11:g.10533218C>T , CM000679.2:g.10533218C>T | GRCh38 |
NC_000017.10:g.10436535C>T , CM000679.1:g.10436535C>T | GRCh37 |
NC_000017.9:g.10377260C>T | NCBI36 |
NG_013014.1:g.21483G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245503.10:c.2441+67G>A (MYH2) MANE Select | ENSP00000245503.5:n.2441+67G>A | |
ENST00000245503.9:c.2441+67G>A (MYH2) | ENSP00000245503.5:n.2441+67G>A | |
ENST00000397183.6:c.2441+67G>A (MYH2) | ENSP00000380367.2:n.2441+67G>A | |
ENST00000532183.6:c.1974+3312G>A (MYH2) | ENSP00000433944.1:n.1974+3312G>A | |
ENST00000622564.4:c.1974+3312G>A (MYH2) | ENSP00000482463.1:n.1974+3312G>A | |
NM_001100112.1:c.2441+67G>A (MYH2) | NP_001093582.1:n.2441+67G>A | |
NM_017534.5:c.2441+67G>A (MYH2) | NP_060004.3:n.2441+67G>A | |
NR_125367.1:n.168-34319C>T (MYHAS) | ||
NM_017534.6:c.2441+67G>A (MYH2) MANE Select | NP_060004.3:n.2441+67G>A | |
NM_001100112.2:c.2441+67G>A (MYH2) | NP_001093582.1:n.2441+67G>A |