HGVS | Genome Assembly |
---|---|
NC_000010.11:g.25591495T>C , CM000672.2:g.25591495T>C | GRCh38 |
NC_000010.10:g.25880424T>C , CM000672.1:g.25880424T>C | GRCh37 |
NC_000010.9:g.25920430T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376351.4:c.1892+2350T>C MANE Select | ENSP00000365529.3:n.1892+2350T>C | |
ENST00000650135.1:c.1655+2350T>C | ENSP00000498176.1:n.1655+2350T>C | |
ENST00000376351.3:c.1892+2350T>C | ENSP00000365529.3:n.1892+2350T>C | |
NM_020752.2:c.1892+2350T>C | NP_065803.2:n.1892+2350T>C | |
XR_930511.1:n.2576+2350T>C | ||
XR_930512.1:n.2576+2350T>C | ||
XM_017016452.2:c.332+2350T>C | XP_016871941.1:n.332+2350T>C | |
XR_930512.3:n.2576+2350T>C | ||
NM_020752.3:c.1892+2350T>C MANE Select | NP_065803.2:n.1892+2350T>C |