HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124742313A= , CM000673.2:g.124742313A= | GRCh38 |
NC_000011.9:g.124612209A= , CM000673.1:g.124612209A= | GRCh37 |
NC_000011.8:g.124117419A= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284292.11:c.15+2214A= MANE Select | ENSP00000284292.5:n.15+2214A= | |
ENST00000284292.10:c.15+2214A= | ENSP00000284292.5:n.15+2214A= | |
ENST00000412681.2:c.15+2214A= | ENSP00000399591.1:n.15+2214A= | |
NM_001126181.1:c.15+2214A= | NP_001119653.1:n.15+2214A= | |
NM_006176.2:c.15+2214A= | NP_006167.1:n.15+2214A= | |
XR_429013.2:n.2270T= | ||
XR_948129.1:n.1758T= | ||
XR_948130.1:n.1291T= | ||
XR_948131.1:n.2087T= | ||
NM_006176.3:c.15+2214A= MANE Select | NP_006167.1:n.15+2214A= | |
NM_001126181.2:c.15+2214A= | NP_001119653.1:n.15+2214A= |