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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.73600380G= , CM000668.2:g.73600380G=
GRCh38
NC_000006.11:g.74310103G= , CM000668.1:g.74310103G=
GRCh37
NC_000006.10:g.74366824G=
NCBI36
NG_008272.1:g.58635C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.1321C=
MANE Select
ENSP00000348019.5:p.Pro441=
ENST00000355773.5:c.1321C=
ENSP00000348019.5:p.Pro441=
NM_012434.4:c.1321C=
NP_036566.1:p.Pro441=
XM_005248710.2:c.1270C=
XP_005248767.1:p.Pro424=
XM_005248711.1:c.1123C=
XP_005248768.1:p.Pro375=
XM_011535750.1:c.1173C=
XP_011534052.1:p.Gly391=
NM_012434.5:c.1321C=
MANE Select
NP_036566.1:p.Pro441=
NM_001382629.1:c.1090C=
NP_001369558.1:p.Pro364=
NM_001382630.1:c.1260-5166C=
NP_001369559.1:n.1260-5166C=
NM_001382631.1:c.1342C=
NP_001369560.1:p.Pro448=
NM_001382632.1:c.1234C=
NP_001369561.1:p.Pro412=
NM_001382633.1:c.1321C=
NP_001369562.1:p.Pro441=
NM_001382634.1:c.1162C=
NP_001369563.1:p.Pro388=
NM_001382635.1:c.1318C=
NP_001369564.1:p.Pro440=
NM_001382636.1:c.1003C=
NP_001369565.1:p.Pro335=