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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.107634482C>A , CM000668.2:g.107634482C>A
GRCh38
NC_000006.11:g.107955686C>A , CM000668.1:g.107955686C>A
GRCh37
NC_000006.10:g.108062379C>A
NCBI36
NG_028200.1:g.149370C>A
NG_028200.2:g.149370C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317357.10:c.1638C>A
MANE Select
ENSP00000318900.5:p.Val546=
ENST00000317357.9:c.1638C>A
ENSP00000318900.5:p.Val546=
NM_018013.3:c.1638C>A
NP_060483.3:p.Val546=
XM_005267041.3:c.1791C>A
XP_005267098.1:p.Val597=
XM_005267042.3:c.1695C>A
XP_005267099.1:p.Val565=
XM_011535920.1:c.1791C>A
XP_011534222.1:p.Val597=
XM_011535921.1:c.1677C>A
XP_011534223.1:p.Val559=
XM_011535922.1:c.1050C>A
XP_011534224.1:p.Val350=
XM_011535923.1:c.861C>A
XP_011534225.1:p.Val287=
XM_005267041.4:c.1791C>A
XP_005267098.1:p.Val597=
XM_005267042.4:c.1695C>A
XP_005267099.1:p.Val565=
XM_011535920.2:c.1791C>A
XP_011534222.1:p.Val597=
XM_011535921.2:c.1677C>A
XP_011534223.1:p.Val559=
XM_011535923.2:c.861C>A
XP_011534225.1:p.Val287=
XM_017010991.1:c.1191C>A
XP_016866480.1:p.Val397=
XM_017010992.1:c.1191C>A
XP_016866481.1:p.Val397=
XM_017010993.1:c.1191C>A
XP_016866482.1:p.Val397=
XM_017010994.1:c.1191C>A
XP_016866483.1:p.Val397=
NM_018013.4:c.1638C>A
MANE Select
NP_060483.3:p.Val546=