HGVS | Genome Assembly |
---|---|
NC_000012.12:g.14978024C>T , CM000674.2:g.14978024C>T | GRCh38 |
NC_000012.11:g.15130958C>T , CM000674.1:g.15130958C>T | GRCh37 |
NC_000012.10:g.15022225C>T | NCBI36 |
NG_016859.1:g.10003C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266395.3:c.12C>T MANE Select | ENSP00000266395.2:p.Asn4= | |
ENST00000266395.2:c.12C>T | ENSP00000266395.2:p.Asn4= | |
NM_006205.2:c.12C>T | NP_006196.1:p.Asn4= | |
XR_931376.1:n.175+11463G>A | ||
XM_017019431.2:c.12C>T | XP_016874920.1:p.Asn4= | |
XR_931376.2:n.389+11463G>A | ||
NM_006205.3:c.12C>T MANE Select | NP_006196.1:p.Asn4= |