HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119676554C>A , CM000672.2:g.119676554C>A | GRCh38 |
NC_000010.10:g.121436066C>A , CM000672.1:g.121436066C>A | GRCh37 |
NC_000010.9:g.121426056C>A | NCBI36 |
NG_016125.1:g.30185C>A , LRG_742:g.30185C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.1000C>A MANE Select | ENSP00000358081.4:p.Pro334Thr | |
ENST00000369085.7:c.1000C>A | ENSP00000358081.3:p.Pro334Thr | |
ENST00000450186.1:c.823C>A | ENSP00000410036.1:p.Pro275Thr | |
NM_004281.3:c.1000C>A , LRG_742t1:c.1000C>A | NP_004272.2:p.Pro334Thr | |
XM_005270287.1:c.997C>A | XP_005270344.1:p.Pro333Thr | |
XM_005270287.2:c.997C>A | XP_005270344.1:p.Pro333Thr | |
NM_004281.4:c.1000C>A MANE Select | NP_004272.2:p.Pro334Thr |