HGVS | Genome Assembly |
---|---|
NC_000001.11:g.62447495A>C , CM000663.2:g.62447495A>C | GRCh38 |
NC_000001.10:g.62913166A>C , CM000663.1:g.62913166A>C | GRCh37 |
NC_000001.9:g.62685754A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339950.5:c.1404A>C MANE Select | ENSP00000343526.4:p.Val468= | |
ENST00000339950.4:c.1404A>C | ENSP00000343526.4:p.Val468= | |
ENST00000371146.5:c.1404A>C | ENSP00000360188.1:p.Val468= | |
NM_001017415.1:c.1404A>C | NP_001017415.1:p.Val468= | |
NM_001017416.1:c.1404A>C | NP_001017416.1:p.Val468= | |
NM_003368.4:c.1404A>C | NP_003359.3:p.Val468= | |
NM_003368.5:c.1404A>C MANE Select | NP_003359.3:p.Val468= | |
NM_001017415.2:c.1404A>C | NP_001017415.1:p.Val468= | |
NM_001017416.2:c.1404A>C | NP_001017416.1:p.Val468= |