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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29827129T>G , CM000668.2:g.29827129T>G
GRCh38
NC_000006.11:g.29794906T>G , CM000668.1:g.29794906T>G
GRCh37
NC_000006.10:g.29902885T>G
NCBI36
NG_029039.1:g.5151T>G
Transcript Alleles
HGVS
Amino-acid Change
NM_001363567.1:c.6+85T>G
NP_001350496.1:n.6+85T>G
NM_001363567.2:c.6+85T>G
NP_001350496.1:n.6+85T>G
NM_001384280.1:c.6+85T>G
NP_001371209.1:n.6+85T>G
NM_002127.5:c.-113+85T>G
NP_002118.1:n.-113+85T>G
NM_002127.6:c.-113+85T>G
NP_002118.1:n.-113+85T>G
ENST00000376828.6:c.6+85T>G
ENSP00000366024.2:n.6+85T>G
ENST00000428701.5:c.-113+85T>G
ENSP00000412927.1:n.-113+85T>G
ENST00000428701.6:n.66+85T>G