HGVS | Genome Assembly |
---|---|
NC_000019.10:g.14029090C>T , CM000681.2:g.14029090C>T | GRCh38 |
NC_000019.9:g.14139902C>T , CM000681.1:g.14139902C>T | GRCh37 |
NC_000019.8:g.14000902C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000431365.3:c.190+696C>T MANE Select | ENSP00000397415.2:n.190+696C>T | |
ENST00000431365.2:c.190+696C>T | ENSP00000397415.2:n.190+696C>T | |
ENST00000585987.1:c.190+696C>T | ENSP00000467130.1:n.190+696C>T | |
NM_001311197.1:c.190+696C>T | NP_001298126.1:n.190+696C>T | |
NM_080864.2:c.190+696C>T | NP_543140.1:n.190+696C>T | |
NM_080864.3:c.190+696C>T | NP_543140.1:n.190+696C>T | |
NM_080864.4:c.190+696C>T MANE Select | NP_543140.1:n.190+696C>T | |
NM_001311197.2:c.190+696C>T | NP_001298126.1:n.190+696C>T |