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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.81729622A>C , CM000669.2:g.81729622A>C
GRCh38
NC_000007.13:g.81358938A>C , CM000669.1:g.81358938A>C
GRCh37
NC_000007.12:g.81196874A>C
NCBI36
NG_016274.1:g.45515T>G
NG_016274.2:g.45515T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000222390.11:c.1023T>G
MANE Select
ENSP00000222390.5:p.Pro341=
ENST00000457544.7:c.1008T>G
ENSP00000391238.2:p.Pro336=
ENST00000222390.9:c.1023T>G
ENSP00000222390.5:p.Pro341=
ENST00000457544.6:c.1008T>G
ENSP00000391238.2:p.Pro336=
NM_000601.4:c.1023T>G
NP_000592.3:p.Pro341=
NM_001010932.1:c.1008T>G
NP_001010932.1:p.Pro336=
XM_006715956.2:c.1023T>G
XP_006716019.1:p.Pro341=
XM_011516115.1:c.1008T>G
XP_011514417.1:p.Pro336=
NM_000601.5:c.1023T>G
NP_000592.3:p.Pro341=
NM_001010932.2:c.1008T>G
NP_001010932.1:p.Pro336=
XM_011516115.2:c.1008T>G
XP_011514417.1:p.Pro336=
NM_000601.6:c.1023T>G
MANE Select
NP_000592.3:p.Pro341=
NM_001010932.3:c.1008T>G
NP_001010932.1:p.Pro336=