HGVS | Genome Assembly |
---|---|
NC_000007.14:g.2830314A>G , CM000669.2:g.2830314A>G | GRCh38 |
NC_000007.13:g.2869948A>G , CM000669.1:g.2869948A>G | GRCh37 |
NC_000007.12:g.2836474A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000275364.8:c.309+13539T>C MANE Select | ENSP00000275364.3:n.309+13539T>C | |
ENST00000275364.7:c.309+13539T>C | ENSP00000275364.3:n.309+13539T>C | |
NM_001293092.1:c.309+13539T>C | NP_001280021.1:n.309+13539T>C | |
NM_007353.2:c.309+13539T>C | NP_031379.2:n.309+13539T>C | |
XM_011515288.1:c.19-35171T>C | XP_011513590.1:n.19-35171T>C | |
XM_011515288.3:c.19-35171T>C | XP_011513590.1:n.19-35171T>C | |
NM_007353.3:c.309+13539T>C MANE Select | NP_031379.2:n.309+13539T>C | |
NM_001293092.2:c.309+13539T>C | NP_001280021.1:n.309+13539T>C |