HGVS | Genome Assembly |
---|---|
NC_000002.12:g.37352794C>T , CM000664.2:g.37352794C>T | GRCh38 |
NC_000002.11:g.37579937C>T , CM000664.1:g.37579937C>T | GRCh37 |
NC_000002.10:g.37433441C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000338415.8:c.126C>T MANE Select | ENSP00000344829.3:p.Tyr42= | |
ENST00000650442.1:c.-67C>T | ENSP00000498156.1:n.-67C>T | |
ENST00000338415.7:c.126C>T | ENSP00000344829.3:p.Tyr42= | |
ENST00000404976.5:c.121-6786C>T | ENSP00000385391.1:n.121-6786C>T | |
ENST00000470075.1:n.130C>T | ||
NM_012413.3:c.126C>T | NP_036545.1:p.Tyr42= | |
NM_012413.4:c.126C>T MANE Select | NP_036545.1:p.Tyr42= |