HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566931C>T , CM000685.2:g.137566931C>T | GRCh38 |
NC_000023.10:g.136649090C>T , CM000685.1:g.136649090C>T | GRCh37 |
NC_000023.9:g.136476756C>T | NCBI36 |
NG_008115.1:g.5745C>T | |
NG_008115.2:g.5805C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.240C>T MANE Select | ENSP00000287538.5:p.Gly80= | |
ENST00000287538.9:c.240C>T | ENSP00000287538.5:p.Gly80= | |
ENST00000370606.3:c.240C>T | ENSP00000359638.3:p.Gly80= | |
NM_003413.3:c.240C>T | NP_003404.1:p.Gly80= | |
NM_001330661.1:c.240C>T | NP_001317590.1:p.Gly80= | |
NM_003413.4:c.240C>T MANE Select | NP_003404.1:p.Gly80= |