HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6145447G>T , CM000668.2:g.6145447G>T | GRCh38 |
NC_000006.11:g.6145680G>T , CM000668.1:g.6145680G>T | GRCh37 |
NC_000006.10:g.6090679G>T | NCBI36 |
NG_008107.1:g.180245C>A , LRG_549:g.180245C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.*172C>A MANE Select | ENSP00000264870.3:n.*172C>A | |
ENST00000264870.7:c.*172C>A | ENSP00000264870.3:n.*172C>A | |
NM_000129.3:c.*172C>A , LRG_549t1:c.*172C>A | NP_000120.2:n.*172C>A | |
XM_006715010.2:c.*172C>A | XP_006715073.1:n.*172C>A | |
XM_011514342.1:c.*172C>A | XP_011512644.1:n.*172C>A | |
NM_000129.4:c.*172C>A MANE Select | NP_000120.2:n.*172C>A |