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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.156594981T>C , CM000667.2:g.156594981T>C
GRCh38
NC_000005.9:g.156021991T>C , CM000667.1:g.156021991T>C
GRCh37
NC_000005.8:g.155954569T>C
NCBI36
NG_008693.2:g.729638T>C , LRG_205:g.729638T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000337851.9:c.432T>C
MANE Select
ENSP00000338343.4:p.Val144=
ENST00000337851.8:c.432T>C
ENSP00000338343.4:p.Val144=
ENST00000435422.7:c.429T>C
ENSP00000403003.2:p.Val143=
ENST00000517913.5:c.432T>C
ENSP00000429378.1:p.Val144=
NM_000337.5:c.432T>C , LRG_205t1:c.432T>C
NP_000328.2:p.Val144=
NM_001128209.1:c.429T>C
NP_001121681.1:p.Val143=
NM_172244.2:c.432T>C
NP_758447.1:p.Val144=
XM_005265966.3:c.432T>C
XP_005266023.1:p.Val144=
XM_005265967.1:c.432T>C
XP_005266024.1:p.Val144=
XM_006714911.2:c.432T>C
XP_006714974.1:p.Val144=
XM_011534621.1:c.429T>C
XP_011532923.1:p.Val143=
XM_005265966.5:c.432T>C
XP_005266023.1:p.Val144=
XM_005265967.2:c.432T>C
XP_005266024.1:p.Val144=
XM_011534621.2:c.429T>C
XP_011532923.1:p.Val143=
XM_017009723.2:c.432T>C
XP_016865212.1:p.Val144=
XM_017009724.1:c.432T>C
XP_016865213.1:p.Val144=
NM_001128209.2:c.429T>C
NP_001121681.1:p.Val143=
NM_172244.3:c.432T>C
NP_758447.1:p.Val144=
NM_000337.6:c.432T>C
MANE Select
NP_000328.2:p.Val144=