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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.23165889T>G , CM000669.2:g.23165889T>G
GRCh38
NC_000007.13:g.23205508T>G , CM000669.1:g.23205508T>G
GRCh37
NC_000007.12:g.23172033T>G
NCBI36
NG_016983.1:g.65156T>G
NG_016983.2:g.65156T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000339077.10:c.1128T>G
MANE Select
ENSP00000343273.4:p.Ala376=
ENST00000339077.9:c.1128T>G
ENSP00000343273.4:p.Ala376=
ENST00000409689.5:c.984T>G
ENSP00000386263.1:p.Ala328=
ENST00000469576.1:n.15T>G
ENST00000521082.5:c.*1136T>G
ENSP00000430351.1:n.*1136T>G
NM_001031710.2:c.1128T>G
NP_001026880.2:p.Ala376=
NM_018846.4:c.984T>G
NP_061334.4:p.Ala328=
NR_033328.1:n.1552T>G
XM_006715753.1:c.1167T>G
XP_006715816.1:p.Ala389=
XM_006715754.1:c.1101T>G
XP_006715817.1:p.Ala367=
XM_006715755.1:c.1101T>G
XP_006715818.1:p.Ala367=
XM_006715756.1:c.1023T>G
XP_006715819.1:p.Ala341=
XM_006715753.3:c.1167T>G
XP_006715816.1:p.Ala389=
XM_006715754.3:c.1101T>G
XP_006715817.1:p.Ala367=
XM_006715755.3:c.1101T>G
XP_006715818.1:p.Ala367=
XM_006715756.3:c.1023T>G
XP_006715819.1:p.Ala341=
XM_017012439.2:c.1062T>G
XP_016867928.1:p.Ala354=
NM_001031710.3:c.1128T>G
MANE Select
NP_001026880.2:p.Ala376=
NM_018846.5:c.984T>G
NP_061334.4:p.Ala328=
NR_033328.2:n.1501T>G