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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24777252T>G , CM000668.2:g.24777252T>G
GRCh38
NC_000006.11:g.24777480T>G , CM000668.1:g.24777480T>G
GRCh37
NC_000006.10:g.24885459T>G
NCBI36
NG_030440.1:g.7322T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000230056.8:c.6T>G
MANE Select
ENSP00000230056.3:p.Asn2Lys
ENST00000230056.7:c.6T>G
ENSP00000230056.3:p.Asn2Lys
ENST00000356509.7:c.6T>G
ENSP00000348902.3:p.Asn2Lys
ENST00000378054.6:c.6T>G
ENSP00000367293.2:p.Asn2Lys
ENST00000378059.3:c.6T>G
ENSP00000367298.3:p.Asn2Lys
ENST00000468943.1:n.195T>G
ENST00000476555.5:c.6T>G
ENSP00000419584.1:p.Asn2Lys
ENST00000620958.4:c.6T>G
ENSP00000477506.1:p.Asn2Lys
NM_001251989.1:c.6T>G
NP_001238918.1:p.Asn2Lys
NM_001251990.1:c.6T>G
NP_001238919.1:p.Asn2Lys
NM_001251991.1:c.6T>G
NP_001238920.1:p.Asn2Lys
NM_015895.4:c.6T>G
NP_056979.1:p.Asn2Lys
XM_005249159.1:c.6T>G
XP_005249216.1:p.Asn2Lys
XM_005249159.2:c.6T>G
XP_005249216.1:p.Asn2Lys
NM_015895.5:c.6T>G
MANE Select
NP_056979.1:p.Asn2Lys
NM_001251989.2:c.6T>G
NP_001238918.1:p.Asn2Lys
NM_001251990.2:c.6T>G
NP_001238919.1:p.Asn2Lys