HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218657A>T , CM000676.2:g.93218657A>T | GRCh38 |
NC_000014.8:g.93685003A>T , CM000676.1:g.93685003A>T | GRCh37 |
NC_000014.7:g.92754756A>T | NCBI36 |
NG_051089.1:g.16602A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000013070.11:c.732A>T MANE Select | ENSP00000013070.6:p.Gly244= | |
ENST00000013070.10:c.732A>T | ENSP00000013070.6:p.Gly244= | |
ENST00000416753.5:c.504A>T | ENSP00000391706.2:p.Gly168= | |
ENST00000553674.1:c.*433A>T | ENSP00000450470.1:n.*433A>T | |
ENST00000553857.5:c.378+3376A>T | ||
ENST00000556871.5:c.441A>T | ENSP00000451022.1:p.Gly147= | |
NM_175748.3:c.732A>T | NP_786924.2:p.Gly244= | |
NR_038150.1:n.834A>T | ||
NM_175748.4:c.732A>T MANE Select | NP_786924.2:p.Gly244= | |
NR_038150.2:n.634A>T |