HGVS | Genome Assembly |
---|---|
NC_000012.12:g.47844438G>T , CM000674.2:g.47844438G>T | GRCh38 |
NC_000012.11:g.48238221G>T , CM000674.1:g.48238221G>T | GRCh37 |
NC_000012.10:g.46524488G>T | NCBI36 |
NG_008731.1:g.65594C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229022.9:c.*107C>A | ENSP00000229022.5:n.*107C>A | |
ENST00000549336.6:c.*308C>A MANE Select | ENSP00000449573.2:n.*308C>A | |
ENST00000229022.7:c.*308C>A | ENSP00000229022.3:n.*308C>A | |
ENST00000395324.6:c.*308C>A | ENSP00000378734.2:n.*308C>A | |
ENST00000549336.5:c.*308C>A | ENSP00000449573.1:n.*308C>A | |
ENST00000550325.5:c.*308C>A | ENSP00000447173.1:n.*308C>A | |
NM_000376.2:c.*308C>A | NP_000367.1:n.*308C>A | |
NM_001017535.1:c.*308C>A | NP_001017535.1:n.*308C>A | |
NM_001017536.1:c.*308C>A | NP_001017536.1:n.*308C>A | |
XM_006719587.2:c.*308C>A | XP_006719650.1:n.*308C>A | |
XM_011538720.1:c.*308C>A | XP_011537022.1:n.*308C>A | |
NM_001364085.1:c.*107C>A | NP_001351014.1:n.*107C>A | |
NM_000376.3:c.*308C>A MANE Select | NP_000367.1:n.*308C>A | |
NM_001017535.2:c.*308C>A | NP_001017535.1:n.*308C>A | |
NM_001017536.2:c.*308C>A | NP_001017536.1:n.*308C>A | |
NM_001364085.2:c.*107C>A | NP_001351014.1:n.*107C>A | |
NM_001374661.1:c.*308C>A | NP_001361590.1:n.*308C>A | |
NM_001374662.1:c.*308C>A | NP_001361591.1:n.*308C>A |