HGVS | Genome Assembly |
---|---|
NC_000015.10:g.78625057A>G , CM000677.2:g.78625057A>G | GRCh38 |
NC_000015.9:g.78917399A>G , CM000677.1:g.78917399A>G | GRCh37 |
NC_000015.8:g.76704454A>G | NCBI36 |
NG_016143.1:g.1239T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261751.8:c.*76T>C MANE Select | ENSP00000261751.3:n.*76T>C | |
ENST00000261751.7:c.*76T>C | ENSP00000261751.3:n.*76T>C | |
ENST00000412074.6:c.594T>C | ENSP00000416386.2:p.Ala198= | |
NM_000750.3:c.*76T>C | NP_000741.1:n.*76T>C | |
NM_001256567.1:c.594T>C | NP_001243496.1:p.Ala198= | |
XM_011521181.1:c.*76T>C | XP_011519483.1:n.*76T>C | |
XM_011521186.1:c.*76T>C | XP_011519488.1:n.*76T>C | |
XM_011521187.1:c.*76T>C | XP_011519489.1:n.*76T>C | |
XM_011521188.1:c.*76T>C | XP_011519490.1:n.*76T>C | |
XM_011521189.1:c.*76T>C | XP_011519491.1:n.*76T>C | |
XM_011521190.1:c.*76T>C | XP_011519492.1:n.*76T>C | |
XM_011521191.1:c.*76T>C | XP_011519493.1:n.*76T>C | |
XM_011521192.1:c.*76T>C | XP_011519494.1:n.*76T>C | |
XM_011521193.1:c.777T>C | XP_011519495.1:p.Ala259= | |
NM_000750.4:c.*76T>C | NP_000741.1:n.*76T>C | |
NM_001256567.2:c.594T>C | NP_001243496.1:p.Ala198= | |
XM_011521186.2:c.*76T>C | XP_011519488.1:n.*76T>C | |
XM_011521187.2:c.*76T>C | XP_011519489.1:n.*76T>C | |
XM_011521190.2:c.*76T>C | XP_011519492.1:n.*76T>C | |
XM_011521191.2:c.*76T>C | XP_011519493.1:n.*76T>C | |
XM_011521192.2:c.*76T>C | XP_011519494.1:n.*76T>C | |
XM_017021885.1:c.*76T>C | XP_016877374.1:n.*76T>C | |
XM_017021886.1:c.*76T>C | XP_016877375.1:n.*76T>C | |
NM_000750.5:c.*76T>C MANE Select | NP_000741.1:n.*76T>C | |
NM_001256567.3:c.594T>C | NP_001243496.1:p.Ala198= |