HGVS | Genome Assembly |
---|---|
NC_000021.9:g.25891734A>G , CM000683.2:g.25891734A>G | GRCh38 |
NC_000021.8:g.27264046A>G , CM000683.1:g.27264046A>G | GRCh37 |
NC_000021.7:g.26185917A>G | NCBI36 |
NG_007376.1:g.284087T>C | |
NG_007376.2:g.284395T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000707132.1:n.2166T>C | ||
ENST00000707133.1:n.596T>C | ||
ENST00000707134.1:n.865T>C | ||
ENST00000346798.8:c.2199T>C MANE Select | ENSP00000284981.4:p.His733= | |
ENST00000346798.7:c.2199T>C | ENSP00000284981.4:p.His733= | |
ENST00000348990.9:c.1974T>C | ENSP00000345463.5:p.His658= | |
ENST00000354192.7:c.1806T>C | ENSP00000346129.3:p.His602= | |
ENST00000357903.7:c.2142T>C | ENSP00000350578.3:p.His714= | |
ENST00000358918.7:c.2145T>C | ENSP00000351796.3:p.His715= | |
ENST00000359726.7:c.1869T>C | ENSP00000352760.4:p.His623= | |
ENST00000439274.6:c.2031T>C | ENSP00000398879.2:p.His677= | |
ENST00000440126.7:c.2127T>C | ENSP00000387483.2:p.His709= | |
ENST00000464867.1:n.546T>C | ||
NM_000484.3:c.2199T>C | NP_000475.1:p.His733= | |
NM_001136016.3:c.2127T>C | NP_001129488.1:p.His709= | |
NM_001136129.2:c.1806T>C | NP_001129601.1:p.His602= | |
NM_001136130.2:c.2031T>C | NP_001129602.1:p.His677= | |
NM_001136131.2:c.1869T>C | NP_001129603.1:p.His623= | |
NM_001204301.1:c.2145T>C | NP_001191230.1:p.His715= | |
NM_001204302.1:c.2088T>C | NP_001191231.1:p.His696= | |
NM_001204303.1:c.1920T>C | NP_001191232.1:p.His640= | |
NM_201413.2:c.2142T>C | NP_958816.1:p.His714= | |
NM_201414.2:c.1974T>C | NP_958817.1:p.His658= | |
NM_000484.4:c.2199T>C MANE Select | NP_000475.1:p.His733= | |
NM_001136129.3:c.1806T>C | NP_001129601.1:p.His602= | |
NM_001136130.3:c.2031T>C | NP_001129602.1:p.His677= | |
NM_001204301.2:c.2145T>C | NP_001191230.1:p.His715= | |
NM_001204302.2:c.2088T>C | NP_001191231.1:p.His696= | |
NM_001204303.2:c.1920T>C | NP_001191232.1:p.His640= | |
NM_201413.3:c.2142T>C | NP_958816.1:p.His714= | |
NM_201414.3:c.1974T>C | NP_958817.1:p.His658= | |
NM_001136131.3:c.1869T>C | NP_001129603.1:p.His623= | |
NM_001385253.1:c.2031T>C | NP_001372182.1:p.His677= |