HGVS | Genome Assembly |
---|---|
NC_000008.11:g.24952562C>G , CM000670.2:g.24952562C>G | GRCh38 |
NC_000008.10:g.24810075C>G , CM000670.1:g.24810075C>G | GRCh37 |
NC_000008.9:g.24865992C>G | NCBI36 |
NG_008492.1:g.9056G>C , LRG_259:g.9056G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000610854.2:c.*248G>C MANE Select | ENSP00000482169.2:n.*248G>C | |
ENST00000610854.1:c.*248G>C | ENSP00000482169.1:n.*248G>C | |
ENST00000619417.1:c.*745G>C | ENSP00000483690.1:n.*745G>C | |
NM_006158.4:c.*248G>C , LRG_259t1:c.*248G>C | NP_006149.2:n.*248G>C | |
NM_006158.5:c.*248G>C MANE Select | NP_006149.2:n.*248G>C |