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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24302046T>C , CM000668.2:g.24302046T>C
GRCh38
NC_000006.11:g.24302274T>C , CM000668.1:g.24302274T>C
GRCh37
NC_000006.10:g.24410253T>C
NCBI36
NG_012829.1:g.61007A>G
NG_012829.2:g.86247A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_016356.5:c.349-2A>G
MANE Select
NP_057440.2:n.349-2A>G
ENST00000378454.8:c.349-2A>G
MANE Select
ENSP00000367715.3:n.349-2A>G
NM_001195610.1:c.349-2A>G
NP_001182539.1:n.349-2A>G
NM_001195610.2:c.349-2A>G
NP_001182539.1:n.349-2A>G
NM_016356.4:c.349-2A>G
NP_057440.2:n.349-2A>G
ENST00000378454.7:c.349-2A>G
ENSP00000367715.3:n.349-2A>G