HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154992948C= , CM000685.2:g.154992948C= | GRCh38 |
NC_000023.10:g.154221223C= , CM000685.1:g.154221223C= | GRCh37 |
NC_000023.9:g.153874417C= | NCBI36 |
NG_011403.1:g.34776G= | |
NG_011403.2:g.34776G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.589G= MANE Select | ENSP00000353393.4:p.Val197= | |
ENST00000647125.1:c.*375G= | ENSP00000496062.1:n.*375G= | |
ENST00000360256.8:c.589G= | ENSP00000353393.4:p.Val197= | |
ENST00000423959.5:c.484G= | ENSP00000409446.1:p.Val162= | |
NM_000132.3:c.589G= | NP_000123.1:p.Val197= | |
XM_011531126.1:c.484G= | XP_011529428.1:p.Val162= | |
NM_000132.4:c.589G= MANE Select | NP_000123.1:p.Val197= |