HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14741755C>A , CM000667.2:g.14741755C>A | GRCh38 |
NC_000005.9:g.14741864C>A , CM000667.1:g.14741864C>A | GRCh37 |
NC_000005.8:g.14794864C>A | NCBI36 |
NG_008273.1:g.135024G>T | |
NG_008273.2:g.135031G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284268.8:c.1011+72G>T MANE Select | ENSP00000284268.6:n.1011+72G>T | |
ENST00000284268.6:c.1011+72G>T | ENSP00000284268.6:n.1011+72G>T | |
ENST00000503939.5:n.523+72G>T | ||
ENST00000515517.1:n.317G>T | ||
NM_054027.4:c.1011+72G>T | NP_473368.1:n.1011+72G>T | |
XM_011514067.1:c.1011+72G>T | XP_011512369.1:n.1011+72G>T | |
NM_054027.5:c.1011+72G>T | NP_473368.1:n.1011+72G>T | |
XM_017009644.2:c.927+72G>T | XP_016865133.1:n.927+72G>T | |
NM_054027.6:c.1011+72G>T MANE Select | NP_473368.1:n.1011+72G>T |