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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.27851467C>G , CM000677.2:g.27851467C>G
GRCh38
NC_000015.9:g.28096613C>G , CM000677.1:g.28096613C>G
GRCh37
NC_000015.8:g.25770208C>G
NCBI36
NG_009846.1:g.252846G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000354638.8:c.2253G>C
MANE Select
ENSP00000346659.3:p.Val751=
ENST00000353809.9:c.2181G>C
ENSP00000261276.8:p.Val727=
ENST00000354638.7:c.2253G>C
ENSP00000346659.3:p.Val751=
NM_000275.2:c.2253G>C
NP_000266.2:p.Val751=
NM_001300984.1:c.2181G>C
NP_001287913.1:p.Val727=
XM_011521639.1:c.2319G>C
XP_011519941.1:p.Val773=
XM_011521640.1:c.2295G>C
XP_011519942.1:p.Val765=
XM_011521641.1:c.2277G>C
XP_011519943.1:p.Val759=
XM_011521642.1:c.2247G>C
XP_011519944.1:p.Val749=
XM_011521643.1:c.2205G>C
XP_011519945.1:p.Val735=
XM_011521644.1:c.2181G>C
XP_011519946.1:p.Val727=
XM_011521645.1:c.2112G>C
XP_011519947.1:p.Val704=
XM_011521640.2:c.2295G>C
XP_011519942.1:p.Val765=
XM_017022255.1:c.2319G>C
XP_016877744.1:p.Val773=
XM_017022256.1:c.2277G>C
XP_016877745.1:p.Val759=
XM_017022257.1:c.2247G>C
XP_016877746.1:p.Val749=
XM_017022258.1:c.2277G>C
XP_016877747.1:p.Val759=
XM_017022259.1:c.2205G>C
XP_016877748.1:p.Val735=
XM_017022260.1:c.2181G>C
XP_016877749.1:p.Val727=
XM_017022261.1:c.2124G>C
XP_016877750.1:p.Val708=
XM_017022262.1:c.2268+19687G>C
XP_016877751.1:n.2268+19687G>C
XM_017022263.1:c.2112G>C
XP_016877752.1:p.Val704=
XM_017022264.1:c.2112G>C
XP_016877753.1:p.Val704=
NM_000275.3:c.2253G>C
MANE Select
NP_000266.2:p.Val751=
NM_001300984.2:c.2181G>C
NP_001287913.1:p.Val727=