Canonical Allele Identifier: CA6132189
Gene: PC HGNC NCBI

Linked Data

ClinVar Variation Id: 305633
dbSNP Id: rs139717038

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66871142G>A , CM000673.2:g.66871142G>A GRCh38
NC_000011.9:g.66638613G>A , CM000673.1:g.66638613G>A GRCh37
NC_000011.8:g.66395189G>A NCBI36
NG_008319.1:g.92235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393958.7:c.543C>T ENSP00000377530.2:p.His181=
ENST00000393960.7:c.543C>T MANE Select ENSP00000377532.1:p.His181=
ENST00000524491.6:c.543C>T ENSP00000434192.2:p.His181=
ENST00000525476.2:n.290-21077C>T
ENST00000528224.2:c.543C>T ENSP00000498317.1:p.His181=
ENST00000528403.6:c.543C>T ENSP00000498816.1:p.His181=
ENST00000529047.6:c.543C>T ENSP00000435905.2:p.His181=
ENST00000651036.1:c.543C>T ENSP00000498406.1:p.His181=
ENST00000651469.1:c.543C>T ENSP00000498712.1:p.His181=
ENST00000651854.1:c.543C>T ENSP00000498994.1:p.His181=
ENST00000652125.1:c.543C>T ENSP00000498302.1:p.His181=
ENST00000393955.6:c.543C>T ENSP00000377527.2:p.His181=
ENST00000393958.6:c.543C>T ENSP00000377530.2:p.His181=
ENST00000393960.5:c.543C>T ENSP00000377532.1:p.His181=
ENST00000524491.5:c.423C>T ENSP00000434192.1:p.His141=
ENST00000628663.1:c.423C>T ENSP00000486373.1:p.His141=
NM_000920.3:c.543C>T NP_000911.2:p.His181=
NM_001040716.1:c.543C>T NP_001035806.1:p.His181=
NM_022172.2:c.543C>T NP_071504.2:p.His181=
XM_005274031.3:c.543C>T XP_005274088.1:p.His181=
XM_005274032.3:c.543C>T XP_005274089.1:p.His181=
XM_006718577.2:c.543C>T XP_006718640.1:p.His181=
XM_006718578.2:c.543C>T XP_006718641.1:p.His181=
XM_011545085.1:c.543C>T XP_011543387.1:p.His181=
XM_011545086.1:c.543C>T XP_011543388.1:p.His181=
XM_005274031.4:c.543C>T XP_005274088.1:p.His181=
XM_005274032.4:c.543C>T XP_005274089.1:p.His181=
XM_006718578.3:c.543C>T XP_006718641.1:p.His181=
XM_011545086.2:c.543C>T XP_011543388.1:p.His181=
XM_017017868.1:c.543C>T XP_016873357.1:p.His181=
XM_017017869.1:c.543C>T XP_016873358.1:p.His181=
XM_017017870.1:c.543C>T XP_016873359.1:p.His181=
XM_017017871.1:c.543C>T XP_016873360.1:p.His181=
XM_017017872.2:c.543C>T XP_016873361.1:p.His181=
NM_000920.4:c.543C>T NP_000911.2:p.His181=
NM_001040716.2:c.543C>T MANE Select NP_001035806.1:p.His181=
NM_022172.3:c.543C>T NP_071504.2:p.His181=