HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68431363A>T , CM000663.2:g.68431363A>T | GRCh38 |
NC_000001.10:g.68897046A>T , CM000663.1:g.68897046A>T | GRCh37 |
NC_000001.9:g.68669634A>T | NCBI36 |
NG_008472.1:g.23597T>A | |
NG_008472.2:g.23597T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1257T>A MANE Select | ENSP00000262340.5:p.Pro419= | |
ENST00000262340.5:c.1257T>A | ENSP00000262340.5:p.Pro419= | |
NM_000329.2:c.1257T>A | NP_000320.1:p.Pro419= | |
XM_017002027.1:c.981T>A | XP_016857516.1:p.Pro327= | |
NM_000329.3:c.1257T>A MANE Select | NP_000320.1:p.Pro419= |