HGVS | Genome Assembly |
---|---|
NC_000006.12:g.143485210C>G , CM000668.2:g.143485210C>G | GRCh38 |
NC_000006.11:g.143806347C>G , CM000668.1:g.143806347C>G | GRCh37 |
NC_000006.10:g.143848040C>G | NCBI36 |
NG_008459.1:g.39430C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367591.5:c.1000C>G MANE Select | ENSP00000356563.4:p.His334Asp | |
ENST00000367591.4:c.1000C>G | ENSP00000356563.4:p.His334Asp | |
ENST00000585848.1:n.139C>G | ||
NM_003630.2:c.1000C>G | NP_003621.1:p.His334Asp | |
NM_003630.3:c.1000C>G MANE Select | NP_003621.1:p.His334Asp |