HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49132073G>A , CM000665.2:g.49132073G>A | GRCh38 |
NC_000003.11:g.49169506G>A , CM000665.1:g.49169506G>A | GRCh37 |
NC_000003.10:g.49144510G>A | NCBI36 |
NG_008094.1:g.6094C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.459+43C>T MANE Select | ENSP00000307156.4:n.459+43C>T | |
ENST00000305544.8:c.459+43C>T | ENSP00000307156.4:n.459+43C>T | |
ENST00000418109.5:c.459+43C>T | ENSP00000388325.1:n.459+43C>T | |
ENST00000494831.1:c.12+43C>T | ENSP00000444751.1:n.12+43C>T | |
NM_002292.3:c.459+43C>T | NP_002283.3:n.459+43C>T | |
XM_005265127.3:c.459+43C>T | XP_005265184.1:n.459+43C>T | |
XM_005265127.4:c.459+43C>T | XP_005265184.1:n.459+43C>T | |
NM_002292.4:c.459+43C>T MANE Select | NP_002283.3:n.459+43C>T |