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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.124405559C>A , CM000672.2:g.124405559C>A
GRCh38
NC_000010.10:g.126094128C>A , CM000672.1:g.126094128C>A
GRCh37
NC_000010.9:g.126084118C>A
NCBI36
NG_008861.1:g.18392G>T , LRG_685:g.18392G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368845.6:c.525G>T
MANE Select
ENSP00000357838.5:p.Gly175=
ENST00000368845.5:c.525G>T
ENSP00000357838.5:p.Gly175=
ENST00000467675.5:n.326G>T
ENST00000483711.1:n.371G>T
ENST00000539214.5:c.111G>T
ENSP00000439042.1:p.Gly37=
NM_000274.3:c.525G>T , LRG_685t1:c.525G>T
NP_000265.1:p.Gly175=
NM_001171814.1:c.111G>T
NP_001165285.1:p.Gly37=
XM_006717871.2:c.525G>T
XP_006717934.1:p.Gly175=
XM_011539833.1:c.525G>T
XP_011538135.1:p.Gly175=
XM_011539834.1:c.525G>T
XP_011538136.1:p.Gly175=
NM_001322965.1:c.525G>T
NP_001309894.1:p.Gly175=
NM_001322966.1:c.525G>T
NP_001309895.1:p.Gly175=
NM_001322967.1:c.525G>T
NP_001309896.1:p.Gly175=
NM_001322968.1:c.525G>T
NP_001309897.1:p.Gly175=
NM_001322969.1:c.525G>T
NP_001309898.1:p.Gly175=
NM_001322970.1:c.525G>T
NP_001309899.1:p.Gly175=
NM_001322971.1:c.204G>T
NP_001309900.1:p.Gly68=
NM_001322974.1:c.-76G>T
NP_001309903.1:n.-76G>T
XM_017016279.1:c.-76G>T
XP_016871768.1:n.-76G>T
NM_000274.4:c.525G>T
MANE Select
NP_000265.1:p.Gly175=
NM_001322965.2:c.525G>T
NP_001309894.1:p.Gly175=
NM_001322966.2:c.525G>T
NP_001309895.1:p.Gly175=
NM_001322967.2:c.525G>T
NP_001309896.1:p.Gly175=
NM_001322968.2:c.525G>T
NP_001309897.1:p.Gly175=
NM_001322969.2:c.525G>T
NP_001309898.1:p.Gly175=
NM_001322970.2:c.525G>T
NP_001309899.1:p.Gly175=
NM_001322971.2:c.204G>T
NP_001309900.1:p.Gly68=
NM_001322974.2:c.-76G>T
NP_001309903.1:n.-76G>T
NM_001171814.2:c.111G>T
NP_001165285.1:p.Gly37=