HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372394G>A , CM000679.2:g.44372394G>A | GRCh38 |
NC_000017.10:g.42449762G>A , CM000679.1:g.42449762G>A | GRCh37 |
NC_000017.9:g.39805288G>A | NCBI36 |
NG_008331.1:g.22112C>T , LRG_479:g.22112C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3090C>T MANE Select | ENSP00000262407.5:p.Pro1030= | |
ENST00000648408.1:c.2404C>T | ||
ENST00000262407.5:c.3090C>T | ENSP00000262407.5:p.Pro1030= | |
ENST00000587295.5:c.283C>T | ||
ENST00000588098.1:c.67C>T | ||
NM_000419.3:c.3090C>T , LRG_479t1:c.3090C>T | NP_000410.2:p.Pro1030= | |
XM_011524749.1:c.2988C>T | XP_011523051.1:p.Pro996= | |
XM_011524750.1:c.2973C>T | XP_011523052.1:p.Pro991= | |
NM_000419.4:c.3090C>T | NP_000410.2:p.Pro1030= | |
NM_000419.5:c.3090C>T MANE Select | NP_000410.2:p.Pro1030= |