HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6145436C>A , CM000668.2:g.6145436C>A | GRCh38 |
NC_000006.11:g.6145669C>A , CM000668.1:g.6145669C>A | GRCh37 |
NC_000006.10:g.6090668C>A | NCBI36 |
NG_008107.1:g.180256G>T , LRG_549:g.180256G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.*183G>T MANE Select | ENSP00000264870.3:n.*183G>T | |
ENST00000264870.7:c.*183G>T | ENSP00000264870.3:n.*183G>T | |
NM_000129.3:c.*183G>T , LRG_549t1:c.*183G>T | NP_000120.2:n.*183G>T | |
XM_006715010.2:c.*183G>T | XP_006715073.1:n.*183G>T | |
XM_011514342.1:c.*183G>T | XP_011512644.1:n.*183G>T | |
NM_000129.4:c.*183G>T MANE Select | NP_000120.2:n.*183G>T |