HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136056740T= , CM000667.2:g.136056740T= | GRCh38 |
NC_000005.9:g.135392429T= , CM000667.1:g.135392429T= | GRCh37 |
NC_000005.8:g.135420328T= | NCBI36 |
NG_012646.1:g.32846T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000442011.7:c.1623T= MANE Select | ENSP00000416330.2:p.Ala541= | |
ENST00000442011.6:c.1623T= | ENSP00000416330.2:p.Ala541= | |
ENST00000506699.5:n.2140T= | ||
ENST00000507018.5:c.1601T= | ||
ENST00000509485.5:c.620T= | ||
ENST00000514242.5:n.394T= | ||
ENST00000514554.5:c.775T= | ||
NM_000358.2:c.1623T= | NP_000349.1:p.Ala541= | |
NM_000358.3:c.1623T= MANE Select | NP_000349.1:p.Ala541= |