HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124742279T= , CM000673.2:g.124742279T= | GRCh38 |
NC_000011.9:g.124612175T= , CM000673.1:g.124612175T= | GRCh37 |
NC_000011.8:g.124117385T= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284292.11:c.15+2180T= MANE Select | ENSP00000284292.5:n.15+2180T= | |
ENST00000284292.10:c.15+2180T= | ENSP00000284292.5:n.15+2180T= | |
ENST00000412681.2:c.15+2180T= | ENSP00000399591.1:n.15+2180T= | |
NM_001126181.1:c.15+2180T= | NP_001119653.1:n.15+2180T= | |
NM_006176.2:c.15+2180T= | NP_006167.1:n.15+2180T= | |
XR_429013.2:n.2304A= | ||
XR_948129.1:n.1792A= | ||
XR_948130.1:n.1325A= | ||
XR_948131.1:n.2121A= | ||
NM_006176.3:c.15+2180T= MANE Select | NP_006167.1:n.15+2180T= | |
NM_001126181.2:c.15+2180T= | NP_001119653.1:n.15+2180T= |