HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49131033C>A , CM000665.2:g.49131033C>A | GRCh38 |
NC_000003.11:g.49168466C>A , CM000665.1:g.49168466C>A | GRCh37 |
NC_000003.10:g.49143470C>A | NCBI36 |
NG_008094.1:g.7134G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305544.9:c.832G>T MANE Select | ENSP00000307156.4:p.Val278Phe | |
ENST00000305544.8:c.832G>T | ENSP00000307156.4:p.Val278Phe | |
ENST00000418109.5:c.832G>T | ENSP00000388325.1:p.Val278Phe | |
ENST00000494831.1:c.385G>T | ENSP00000444751.1:p.Val129Phe | |
NM_002292.3:c.832G>T | NP_002283.3:p.Val278Phe | |
XM_005265127.3:c.832G>T | XP_005265184.1:p.Val278Phe | |
XM_005265127.4:c.832G>T | XP_005265184.1:p.Val278Phe | |
NM_002292.4:c.832G>T MANE Select | NP_002283.3:p.Val278Phe |