HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49123258A>C , CM000665.2:g.49123258A>C | GRCh38 |
NC_000003.11:g.49160691A>C , CM000665.1:g.49160691A>C | GRCh37 |
NC_000003.10:g.49135695A>C | NCBI36 |
NG_008094.1:g.14909T>G | |
NG_054716.1:g.2681T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.4098T>G MANE Select | ENSP00000307156.4:p.His1366Gln | |
ENST00000305544.8:c.4098T>G | ENSP00000307156.4:p.His1366Gln | |
ENST00000418109.5:c.4098T>G | ENSP00000388325.1:p.His1366Gln | |
ENST00000469665.1:n.328T>G | ||
NM_002292.3:c.4098T>G | NP_002283.3:p.His1366Gln | |
XM_005265127.3:c.4098T>G | XP_005265184.1:p.His1366Gln | |
XM_005265127.4:c.4098T>G | XP_005265184.1:p.His1366Gln | |
NM_002292.4:c.4098T>G MANE Select | NP_002283.3:p.His1366Gln |