HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6145059T>G , CM000668.2:g.6145059T>G | GRCh38 |
NC_000006.11:g.6145292T>G , CM000668.1:g.6145292T>G | GRCh37 |
NC_000006.10:g.6090291T>G | NCBI36 |
NG_008107.1:g.180633A>C , LRG_549:g.180633A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.*560A>C MANE Select | ENSP00000264870.3:n.*560A>C | |
ENST00000264870.7:c.*560A>C | ENSP00000264870.3:n.*560A>C | |
NM_000129.3:c.*560A>C , LRG_549t1:c.*560A>C | NP_000120.2:n.*560A>C | |
XM_006715010.2:c.*560A>C | XP_006715073.1:n.*560A>C | |
XM_011514342.1:c.*560A>C | XP_011512644.1:n.*560A>C | |
NM_000129.4:c.*560A>C MANE Select | NP_000120.2:n.*560A>C |