HGVS | Genome Assembly |
---|---|
NC_000001.11:g.115700691G>A , CM000663.2:g.115700691G>A | GRCh38 |
NC_000001.10:g.116243312G>A , CM000663.1:g.116243312G>A | GRCh37 |
NC_000001.9:g.116044835G>A | NCBI36 |
NG_008802.1:g.73115C>T , LRG_404:g.73115C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000488931.2:c.*1122C>T | ENSP00000518226.1:n.*1122C>T | |
ENST00000261448.6:c.*550C>T MANE Select | ENSP00000261448.5:n.*550C>T | |
ENST00000261448.5:c.*550C>T | ENSP00000261448.5:n.*550C>T | |
NM_001232.3:c.*550C>T , LRG_404t1:c.*550C>T | NP_001223.2:n.*550C>T | |
NM_001232.4:c.*550C>T MANE Select | NP_001223.2:n.*550C>T |