HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38403418T= , CM000685.2:g.38403418T= | GRCh38 |
NC_000023.10:g.38262671T= , CM000685.1:g.38262671T= | GRCh37 |
NC_000023.9:g.38147615T= | NCBI36 |
NG_008471.1:g.55936T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.541-200T= MANE Select | ENSP00000039007.4:n.541-200T= | |
ENST00000643344.1:c.*291-200T= | ENSP00000496606.1:n.*291-200T= | |
ENST00000039007.4:c.541-200T= | ENSP00000039007.4:n.541-200T= | |
ENST00000465127.1:c.172-262703T= | ENSP00000417050.1:n.172-262703T= | |
ENST00000488812.1:n.578-200T= | ||
NM_000531.5:c.541-200T= | NP_000522.3:n.541-200T= | |
XM_017029556.1:c.541-200T= | XP_016885045.1:n.541-200T= | |
NM_000531.6:c.541-200T= MANE Select | NP_000522.3:n.541-200T= |