HGVS | Genome Assembly |
---|---|
NC_000002.12:g.178014358C>T , CM000664.2:g.178014358C>T | GRCh38 |
NC_000002.11:g.178879085C>T , CM000664.1:g.178879085C>T | GRCh37 |
NC_000002.10:g.178587331C>T | NCBI36 |
NG_012168.1:g.98982G>A | |
NG_012168.2:g.98982G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286063.11:c.1015G>A MANE Select | ENSP00000286063.5:p.Ala339Thr | |
ENST00000286063.10:c.1015G>A | ENSP00000286063.5:p.Ala339Thr | |
ENST00000358450.8:c.265G>A | ENSP00000351232.4:p.Ala89Thr | |
NM_001077197.1:c.265G>A | NP_001070665.1:p.Ala89Thr | |
NM_016953.3:c.1015G>A | NP_058649.3:p.Ala339Thr | |
NM_016953.4:c.1015G>A MANE Select | NP_058649.3:p.Ala339Thr | |
NM_001077197.2:c.265G>A | NP_001070665.1:p.Ala89Thr |