HGVS | Genome Assembly |
---|---|
NC_000002.12:g.178014357G>T , CM000664.2:g.178014357G>T | GRCh38 |
NC_000002.11:g.178879084G>T , CM000664.1:g.178879084G>T | GRCh37 |
NC_000002.10:g.178587330G>T | NCBI36 |
NG_012168.1:g.98983C>A | |
NG_012168.2:g.98983C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286063.11:c.1016C>A MANE Select | ENSP00000286063.5:p.Ala339Asp | |
ENST00000286063.10:c.1016C>A | ENSP00000286063.5:p.Ala339Asp | |
ENST00000358450.8:c.266C>A | ENSP00000351232.4:p.Ala89Asp | |
NM_001077197.1:c.266C>A | NP_001070665.1:p.Ala89Asp | |
NM_016953.3:c.1016C>A | NP_058649.3:p.Ala339Asp | |
NM_016953.4:c.1016C>A MANE Select | NP_058649.3:p.Ala339Asp | |
NM_001077197.2:c.266C>A | NP_001070665.1:p.Ala89Asp |