HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071920G>T , CM000667.2:g.111071920G>T | GRCh38 |
NC_000005.9:g.110407618G>T , CM000667.1:g.110407618G>T | GRCh37 |
NC_000005.8:g.110435517G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344895.4:c.30G>T MANE Select | ENSP00000339804.3:p.Leu10= | |
ENST00000344895.3:c.30G>T | ENSP00000339804.3:p.Leu10= | |
ENST00000420978.6:c.35-5G>T | ENSP00000399099.2:n.35-5G>T | |
NM_033035.4:c.30G>T | NP_149024.1:p.Leu10= | |
NR_045089.1:n.1439-5G>T | ||
NM_033035.5:c.30G>T MANE Select | NP_149024.1:p.Leu10= | |
NR_045089.2:n.1457-5G>T |