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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.68410090G>C , CM000673.2:g.68410090G>C
GRCh38
NC_000011.9:g.68177558G>C , CM000673.1:g.68177558G>C
GRCh37
NC_000011.8:g.67934134G>C
NCBI36
NG_015835.1:g.102451G>C
NG_015835.2:g.102451G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.2268G>C
MANE Select
ENSP00000294304.6:p.Val756=
ENST00000294304.11:c.2268G>C
ENSP00000294304.6:p.Val756=
ENST00000528714.1:n.62G>C
ENST00000529993.5:c.*874G>C
ENSP00000436652.1:n.*874G>C
NM_001291902.1:c.525G>C
NP_001278831.1:p.Val175=
NM_002335.3:c.2268G>C
NP_002326.2:p.Val756=
XM_005273994.2:c.2268G>C
XP_005274051.1:p.Val756=
XM_011545029.1:c.2295G>C
XP_011543331.1:p.Val765=
XM_011545030.1:c.2295G>C
XP_011543332.1:p.Val765=
XM_011545031.1:c.2295G>C
XP_011543333.1:p.Val765=
XR_949925.1:n.2310G>C
XR_949926.1:n.2310G>C
XM_017017735.1:c.525G>C
XP_016873224.1:p.Val175=
XR_001747874.1:n.2310G>C
XR_949925.2:n.2310G>C
XR_949926.2:n.2310G>C
NM_002335.4:c.2268G>C
MANE Select
NP_002326.2:p.Val756=
NM_001291902.2:c.525G>C
NP_001278831.1:p.Val175=