HGVS | Genome Assembly |
---|---|
NC_000003.12:g.150750021G>T , CM000665.2:g.150750021G>T | GRCh38 |
NC_000003.11:g.150467808G>T , CM000665.1:g.150467808G>T | GRCh37 |
NC_000003.10:g.151950498G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000312960.4:c.418-7323C>A MANE Select | ENSP00000322457.3:n.418-7323C>A | |
ENST00000312960.3:c.418-7323C>A | ENSP00000322457.3:n.418-7323C>A | |
ENST00000482706.1:c.40-7323C>A | ENSP00000417619.1:n.40-7323C>A | |
NM_005067.5:c.418-7323C>A | NP_005058.3:n.418-7323C>A | |
NM_005067.6:c.418-7323C>A | NP_005058.3:n.418-7323C>A | |
NM_005067.7:c.418-7323C>A MANE Select | NP_005058.3:n.418-7323C>A |