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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102451883C= , CM000664.2:g.102451883C=
GRCh38
NC_000002.11:g.103068343C= , CM000664.1:g.103068343C=
GRCh37
NC_000002.10:g.102434775C=
NCBI36
NG_011481.1:g.38090C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000687160.1:c.1502C=
MANE Select
ENSP00000510345.1:p.Ala501=
ENST00000264260.6:c.1502C=
ENSP00000264260.2:p.Ala501=
ENST00000409369.1:c.1076C=
ENSP00000387201.1:p.Ala359=
NM_003853.3:c.1502C=
NP_003844.1:p.Ala501=
XM_011512087.1:c.1076C=
XP_011510389.1:p.Ala359=
XM_011512088.1:c.1076C=
XP_011510390.1:p.Ala359=
XM_011512087.2:c.1076C=
XP_011510389.1:p.Ala359=
XM_011512088.2:c.1076C=
XP_011510390.1:p.Ala359=
XM_017005173.1:c.644C=
XP_016860662.1:p.Ala215=
XM_024453197.1:c.1502C=
XP_024308965.1:p.Ala501=
XM_024453198.1:c.1502C=
XP_024308966.1:p.Ala501=
XM_024453199.1:c.1502C=
XP_024308967.1:p.Ala501=
XM_024453200.1:c.1502C=
XP_024308968.1:p.Ala501=
XM_024453201.1:c.1502C=
XP_024308969.1:p.Ala501=
NM_001393486.1:c.1502C=
NP_001380415.1:p.Ala501=
NM_001393487.1:c.1502C=
MANE Select
NP_001380416.1:p.Ala501=
NM_001393488.1:c.1076C=
NP_001380417.1:p.Ala359=
NM_001393489.1:c.1076C=
NP_001380418.1:p.Ala359=
NM_003853.4:c.1502C=
NP_003844.1:p.Ala501=