HGVS | Genome Assembly |
---|---|
NC_000019.10:g.57166775T>C , CM000681.2:g.57166775T>C | GRCh38 |
NC_000019.9:g.57678143T>C , CM000681.1:g.57678143T>C | GRCh37 |
NC_000019.8:g.62369955T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000554048.3:c.25+644A>G MANE Select | ENSP00000452398.1:n.25+644A>G | |
ENST00000554048.2:c.25+644A>G | ENSP00000452398.1:n.25+644A>G | |
NM_001012729.1:c.25+644A>G | NP_001012747.1:n.25+644A>G | |
NM_001012729.2:c.25+644A>G MANE Select | NP_001012747.1:n.25+644A>G |