HGVS | Genome Assembly |
---|---|
NC_000003.12:g.10153282A>C , CM000665.2:g.10153282A>C | GRCh38 |
NC_000003.11:g.10194966A>C , CM000665.1:g.10194966A>C | GRCh37 |
NC_000003.10:g.10169966A>C | NCBI36 |
NG_008212.3:g.16648A>C , LRG_322:g.16648A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696153.1:c.*3317A>C | ENSP00000512444.1:n.*3317A>C | |
ENST00000256474.3:c.*3317A>C MANE Select | ENSP00000256474.3:n.*3317A>C | |
NM_000551.3:c.*3317A>C , LRG_322t1:c.*3317A>C | NP_000542.1:n.*3317A>C | |
NM_198156.2:c.*3317A>C | NP_937799.1:n.*3317A>C | |
NM_001354723.1:c.*3513A>C | NP_001341652.1:n.*3513A>C | |
NM_000551.4:c.*3317A>C MANE Select | NP_000542.1:n.*3317A>C | |
NM_001354723.2:c.*3513A>C | NP_001341652.1:n.*3513A>C | |
NM_198156.3:c.*3317A>C | NP_937799.1:n.*3317A>C |