HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48408950A= , CM000677.2:g.48408950A= | GRCh38 |
NC_000015.9:g.48701147A= , CM000677.1:g.48701147A= | GRCh37 |
NC_000015.8:g.46488439A= | NCBI36 |
NG_008805.2:g.241839T= , LRG_778:g.241839T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682170.1:n.4837T= | ||
ENST00000682767.1:n.3953T= | ||
ENST00000316623.10:c.*2040T= MANE Select | ENSP00000325527.5:n.*2040T= | |
ENST00000316623.9:c.*2040T= | ENSP00000325527.5:n.*2040T= | |
NM_000138.4:c.*2040T= , LRG_778t1:c.*2040T= | NP_000129.3:n.*2040T= | |
NM_000138.5:c.*2040T= MANE Select | NP_000129.3:n.*2040T= |