HGVS | Genome Assembly |
---|---|
NC_000010.11:g.49368603T= , CM000672.2:g.49368603T= | GRCh38 |
NC_000010.10:g.50576648T= , CM000672.1:g.50576648T= | GRCh37 |
NC_000010.9:g.50246654T= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374139.8:c.527-2222A= MANE Select | ENSP00000363254.1:n.527-2222A= | |
ENST00000374139.6:c.527-2222A= | ENSP00000363254.1:n.527-2222A= | |
ENST00000434016.2:c.527-2222A= | ENSP00000401653.2:n.527-2222A= | |
NM_001276451.1:c.527-2222A= | NP_001263380.1:n.527-2222A= | |
XM_011540089.1:c.632-2222A= | XP_011538391.1:n.632-2222A= | |
XM_011540090.1:c.212-2222A= | XP_011538392.1:n.212-2222A= | |
XM_011540089.3:c.632-2222A= | XP_011538391.1:n.632-2222A= | |
NM_001276451.2:c.527-2222A= MANE Select | NP_001263380.1:n.527-2222A= |