HGVS | Genome Assembly |
---|---|
NC_000004.12:g.17681171G>A , CM000666.2:g.17681171G>A | GRCh38 |
NC_000004.11:g.17682794G>A , CM000666.1:g.17682794G>A | GRCh37 |
NC_000004.10:g.17291892G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000265018.4:c.1596+7253C>T MANE Select | ENSP00000265018.3:n.1596+7253C>T | |
ENST00000265018.3:c.1596+7253C>T | ENSP00000265018.3:n.1596+7253C>T | |
NM_015688.1:c.1596+7253C>T | NP_056503.1:n.1596+7253C>T | |
XM_011513834.1:c.1596+7253C>T | XP_011512136.1:n.1596+7253C>T | |
NM_015688.2:c.1596+7253C>T MANE Select | NP_056503.1:n.1596+7253C>T |