HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68431357G>A , CM000663.2:g.68431357G>A | GRCh38 |
NC_000001.10:g.68897040G>A , CM000663.1:g.68897040G>A | GRCh37 |
NC_000001.9:g.68669628G>A | NCBI36 |
NG_008472.1:g.23603C>T | |
NG_008472.2:g.23603C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1263C>T MANE Select | ENSP00000262340.5:p.Ile421= | |
ENST00000262340.5:c.1263C>T | ENSP00000262340.5:p.Ile421= | |
NM_000329.2:c.1263C>T | NP_000320.1:p.Ile421= | |
XM_017002027.1:c.987C>T | XP_016857516.1:p.Ile329= | |
NM_000329.3:c.1263C>T MANE Select | NP_000320.1:p.Ile421= |