HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6021922C>G , CM000674.2:g.6021922C>G | GRCh38 |
NC_000012.11:g.6131088C>G , CM000674.1:g.6131088C>G | GRCh37 |
NC_000012.10:g.6001349C>G | NCBI36 |
NG_009072.1:g.107749G>C | |
NG_009072.2:g.107749G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261405.10:c.3652G>C MANE Select | ENSP00000261405.5:p.Asp1218His | |
ENST00000261405.9:c.3652G>C | ENSP00000261405.5:p.Asp1218His | |
ENST00000538635.5:n.421-27988G>C | ||
ENST00000539641.1:n.5G>C | ||
NM_000552.3:c.3652G>C | NP_000543.2:p.Asp1218His | |
NM_000552.4:c.3652G>C | NP_000543.2:p.Asp1218His | |
NM_000552.5:c.3652G>C MANE Select | NP_000543.3:p.Asp1218His |