HGVS | Genome Assembly |
---|---|
NC_000006.12:g.53128204G>A , CM000668.2:g.53128204G>A | GRCh38 |
NC_000006.11:g.52993002G>A , CM000668.1:g.52993002G>A | GRCh37 |
NC_000006.10:g.53100961G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259803.8:c.*2C>T MANE Select | ENSP00000259803.7:n.*2C>T | |
ENST00000259803.7:c.*2C>T | ENSP00000259803.7:n.*2C>T | |
NM_003643.3:c.*2C>T | NP_003634.2:n.*2C>T | |
XM_017011390.2:c.*2C>T | XP_016866879.1:n.*2C>T | |
NM_003643.4:c.*2C>T MANE Select | NP_003634.2:n.*2C>T |