HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57140614G>T , CM000674.2:g.57140614G>T | GRCh38 |
NC_000012.11:g.57534397G>T , CM000674.1:g.57534397G>T | GRCh37 |
NC_000012.10:g.55820664G>T | NCBI36 |
NG_016444.1:g.17116G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243077.8:c.191-760G>T MANE Select | ENSP00000243077.3:n.191-760G>T | |
ENST00000243077.7:c.191-760G>T | ENSP00000243077.3:n.191-760G>T | |
ENST00000338962.8:c.191-760G>T | ENSP00000341264.4:n.191-760G>T | |
ENST00000553277.5:c.191-760G>T | ENSP00000451449.1:n.191-760G>T | |
ENST00000554174.1:c.191-760G>T | ENSP00000451737.1:n.191-760G>T | |
NM_002332.2:c.191-760G>T | NP_002323.2:n.191-760G>T | |
XM_017019303.1:c.191-760G>T | XP_016874792.1:n.191-760G>T | |
NM_002332.3:c.191-760G>T MANE Select | NP_002323.2:n.191-760G>T |