HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119672271C>T , CM000672.2:g.119672271C>T | GRCh38 |
NC_000010.10:g.121431783C>T , CM000672.1:g.121431783C>T | GRCh37 |
NC_000010.9:g.121421773C>T | NCBI36 |
NG_016125.1:g.25902C>T , LRG_742:g.25902C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.524C>T MANE Select | ENSP00000358081.4:p.Ala175Val | |
ENST00000369085.7:c.524C>T | ENSP00000358081.3:p.Ala175Val | |
ENST00000450186.1:c.350C>T | ENSP00000410036.1:p.Ala117Val | |
NM_004281.3:c.524C>T , LRG_742t1:c.524C>T | NP_004272.2:p.Ala175Val | |
XM_005270287.1:c.524C>T | XP_005270344.1:p.Ala175Val | |
XM_005270287.2:c.524C>T | XP_005270344.1:p.Ala175Val | |
NM_004281.4:c.524C>T MANE Select | NP_004272.2:p.Ala175Val |