Canonical Allele Identifier: CA12092047
Gene: F12 HGNC NCBI
GRK6 HGNC NCBI
COSMIC:
COSN17899797 (not active)
MyVariant.info:
GRCh38 chr5:g.177414338T>C
GRCh37 chr5:g.176841339T>C
gnomAD v2:
5:176841339 T / C
gnomAD v3:
5:177414338 T / C
gnomAD v4:
chr5-177414338-T-C
Joint Max Group AF 0.74216278 (NFE)
Genomes Max Group AF 0.74216278 (NFE)
dbSNP:
2545801
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177414338T>C , CM000667.2:g.177414338T>C GRCh38
NC_000005.9:g.176841339T>C , CM000667.1:g.176841339T>C GRCh37
NC_000005.8:g.176773945T>C NCBI36
NG_007568.1:g.239A>G , LRG_145:g.239A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696200.1:n.78+2168A>G (F12)
ENST00000502598.5:c.-45+10812T>C (GRK6) ENSP00000422873.1:n.-45+10812T>C
ENST00000506296.5:c.-45+9781T>C (GRK6) ENSP00000421055.1:n.-45+9781T>C
XM_011534461.1:c.-26+2168A>G (F12) XP_011532763.1:n.-26+2168A>G
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