HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96250991T>C , CM000664.2:g.96250991T>C | GRCh38 |
NC_000002.11:g.96916729T>C , CM000664.1:g.96916729T>C | GRCh37 |
NC_000002.10:g.96280456T>C | NCBI36 |
NG_027695.1:g.20023A>G , LRG_528:g.20023A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258439.8:c.*2817A>G MANE Select | ENSP00000258439.3:n.*2817A>G | |
ENST00000258439.7:c.*2817A>G | ENSP00000258439.2:n.*2817A>G | |
NM_001193304.2:c.*2817A>G | NP_001180233.1:n.*2817A>G | |
NM_017849.3:c.*2817A>G , LRG_528t1:c.*2817A>G | NP_060319.1:n.*2817A>G | |
XM_017004450.1:c.*2118A>G | XP_016859939.1:n.*2118A>G | |
XM_017004452.1:c.*2817A>G | XP_016859941.1:n.*2817A>G | |
NM_001193304.3:c.*2817A>G | NP_001180233.1:n.*2817A>G | |
NM_017849.4:c.*2817A>G MANE Select | NP_060319.1:n.*2817A>G |