HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96250792T>C , CM000664.2:g.96250792T>C | GRCh38 |
NC_000002.11:g.96916530T>C , CM000664.1:g.96916530T>C | GRCh37 |
NC_000002.10:g.96280257T>C | NCBI36 |
NG_027695.1:g.20222A>G , LRG_528:g.20222A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258439.8:c.*3016A>G MANE Select | ENSP00000258439.3:n.*3016A>G | |
ENST00000258439.7:c.*3016A>G | ENSP00000258439.2:n.*3016A>G | |
NM_001193304.2:c.*3016A>G | NP_001180233.1:n.*3016A>G | |
NM_017849.3:c.*3016A>G , LRG_528t1:c.*3016A>G | NP_060319.1:n.*3016A>G | |
XM_017004450.1:c.*2317A>G | XP_016859939.1:n.*2317A>G | |
XM_017004452.1:c.*3016A>G | XP_016859941.1:n.*3016A>G | |
NM_001193304.3:c.*3016A>G | NP_001180233.1:n.*3016A>G | |
NM_017849.4:c.*3016A>G MANE Select | NP_060319.1:n.*3016A>G |