HGVS | Genome Assembly |
---|---|
NC_000019.10:g.14029067T>C , CM000681.2:g.14029067T>C | GRCh38 |
NC_000019.9:g.14139879T>C , CM000681.1:g.14139879T>C | GRCh37 |
NC_000019.8:g.14000879T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000431365.3:c.190+673T>C MANE Select | ENSP00000397415.2:n.190+673T>C | |
ENST00000431365.2:c.190+673T>C | ENSP00000397415.2:n.190+673T>C | |
ENST00000585987.1:c.190+673T>C | ENSP00000467130.1:n.190+673T>C | |
NM_001311197.1:c.190+673T>C | NP_001298126.1:n.190+673T>C | |
NM_080864.2:c.190+673T>C | NP_543140.1:n.190+673T>C | |
NM_080864.3:c.190+673T>C | NP_543140.1:n.190+673T>C | |
NM_080864.4:c.190+673T>C MANE Select | NP_543140.1:n.190+673T>C | |
NM_001311197.2:c.190+673T>C | NP_001298126.1:n.190+673T>C |