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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.40819382G>A , CM000663.2:g.40819382G>A
GRCh38
NC_000001.10:g.41285054G>A , CM000663.1:g.41285054G>A
GRCh37
NC_000001.9:g.41057641G>A
NCBI36
NG_008139.1:g.40371G>A
NG_008139.2:g.40371G>A
NG_008139.3:g.40596G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000347132.10:c.744G>A
MANE Select
ENSP00000262916.6:p.Val248=
ENST00000347132.9:c.744G>A
ENSP00000262916.6:p.Val248=
ENST00000443478.3:c.430G>A
ENST00000506017.1:n.63G>A
ENST00000509682.6:c.744G>A
ENSP00000423756.2:p.Val248=
NM_004700.3:c.744G>A
NP_004691.2:p.Val248=
NM_172163.2:c.744G>A
NP_751895.1:p.Val248=
XM_011542417.1:c.744G>A
XP_011540719.1:p.Val248=
XM_011542418.1:c.744G>A
XP_011540720.1:p.Val248=
XM_011542419.1:c.744G>A
XP_011540721.1:p.Val248=
XM_011542420.1:c.744G>A
XP_011540722.1:p.Val248=
XR_946798.1:n.750G>A
XR_946799.1:n.750G>A
XR_946800.1:n.750G>A
XM_017002792.1:c.-274G>A
XP_016858281.1:n.-274G>A
NM_004700.4:c.744G>A
MANE Select
NP_004691.2:p.Val248=
NM_172163.3:c.744G>A
NP_751895.1:p.Val248=