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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.54164446C= , CM000682.2:g.54164446C=
GRCh38
NC_000020.10:g.52780985C= , CM000682.1:g.52780985C=
GRCh37
NC_000020.9:g.52214392C=
NCBI36
NG_008334.1:g.14532G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000216862.8:c.844+6G=
MANE Select
ENSP00000216862.3:n.844+6G=
ENST00000216862.7:c.844+6G=
ENSP00000216862.3:n.844+6G=
ENST00000395954.3:c.418+6G=
ENSP00000379284.3:n.418+6G=
ENST00000395955.7:c.844+6G=
ENSP00000379285.3:n.844+6G=
ENST00000487593.1:n.97+6G=
NM_000782.4:c.844+6G=
NP_000773.2:n.844+6G=
NM_001128915.1:c.844+6G=
NP_001122387.1:n.844+6G=
XM_005260304.3:c.844+6G=
XP_005260361.1:n.844+6G=
XM_005260304.5:c.844+6G=
XP_005260361.1:n.844+6G=
XM_017027691.2:c.844+6G=
XP_016883180.1:n.844+6G=
XM_017027692.2:c.844+6G=
XP_016883181.1:n.844+6G=
XM_017027693.2:c.844+6G=
XP_016883182.1:n.844+6G=
NM_000782.5:c.844+6G=
MANE Select
NP_000773.2:n.844+6G=
NM_001128915.2:c.844+6G=
NP_001122387.1:n.844+6G=