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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.73600376A= , CM000668.2:g.73600376A=
GRCh38
NC_000006.11:g.74310099A= , CM000668.1:g.74310099A=
GRCh37
NC_000006.10:g.74366820A=
NCBI36
NG_008272.1:g.58639T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.1325T=
MANE Select
ENSP00000348019.5:p.Val442=
ENST00000355773.5:c.1325T=
ENSP00000348019.5:p.Val442=
NM_012434.4:c.1325T=
NP_036566.1:p.Val442=
XM_005248710.2:c.1274T=
XP_005248767.1:p.Val425=
XM_005248711.1:c.1127T=
XP_005248768.1:p.Val376=
XM_011535750.1:c.1177T=
XP_011534052.1:p.Ser393=
NM_012434.5:c.1325T=
MANE Select
NP_036566.1:p.Val442=
NM_001382629.1:c.1094T=
NP_001369558.1:p.Val365=
NM_001382630.1:c.1260-5162T=
NP_001369559.1:n.1260-5162T=
NM_001382631.1:c.1346T=
NP_001369560.1:p.Val449=
NM_001382632.1:c.1238T=
NP_001369561.1:p.Val413=
NM_001382633.1:c.1325T=
NP_001369562.1:p.Val442=
NM_001382634.1:c.1166T=
NP_001369563.1:p.Val389=
NM_001382635.1:c.1322T=
NP_001369564.1:p.Val441=
NM_001382636.1:c.1007T=
NP_001369565.1:p.Val336=