HGVS | Genome Assembly |
---|---|
NC_000003.12:g.142469498T>G , CM000665.2:g.142469498T>G | GRCh38 |
NC_000003.11:g.142188340T>G , CM000665.1:g.142188340T>G | GRCh37 |
NC_000003.10:g.143671030T>G | NCBI36 |
NG_008951.1:g.114329A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000350721.9:c.6391A>C MANE Select | ENSP00000343741.4:p.Asn2131His | |
ENST00000513291.2:n.1575A>C | ||
ENST00000654170.1:n.1234A>C | ||
ENST00000656590.1:c.5181A>C | ||
ENST00000661310.1:c.6199A>C | ENSP00000499589.1:p.Asn2067His | |
ENST00000665483.1:n.246A>C | ||
ENST00000666447.1:n.226A>C | ||
ENST00000666943.1:n.1855A>C | ||
ENST00000350721.8:c.6391A>C | ENSP00000343741.4:p.Asn2131His | |
NM_001184.3:c.6391A>C | NP_001175.2:p.Asn2131His | |
XM_011512924.1:c.6397A>C | XP_011511226.1:p.Asn2133His | |
XM_011512925.1:c.6205A>C | XP_011511227.1:p.Asn2069His | |
XR_924147.1:n.6486A>C | ||
XR_924148.1:n.6486A>C | ||
XR_924149.1:n.6365A>C | ||
NM_001354579.1:c.6199A>C | NP_001341508.1:p.Asn2067His | |
XR_001740179.2:n.6480A>C | ||
XR_924148.2:n.6486A>C | ||
NM_001184.4:c.6391A>C MANE Select | NP_001175.2:p.Asn2131His | |
NM_001354579.2:c.6199A>C | NP_001341508.1:p.Asn2067His |