HGVS | Genome Assembly |
---|---|
NC_000005.10:g.113387831T>A , CM000667.2:g.113387831T>A | GRCh38 |
NC_000005.9:g.112723528T>A , CM000667.1:g.112723528T>A | GRCh37 |
NC_000005.8:g.112751427T>A | NCBI36 |
NG_012265.1:g.106000A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000408903.7:c.171-2619A>T MANE Select | ENSP00000386227.3:n.171-2619A>T | |
ENST00000408903.6:c.171-2619A>T | ENSP00000386227.3:n.171-2619A>T | |
NM_001085377.1:c.171-2619A>T | NP_001078846.1:n.171-2619A>T | |
XM_017009473.1:c.171-2619A>T | XP_016864962.1:n.171-2619A>T | |
NM_001085377.2:c.171-2619A>T MANE Select | NP_001078846.2:n.171-2619A>T |