×
WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.50269169A>G , CM000676.2:g.50269169A>G
GRCh38
NC_000014.8:g.50735887A>G , CM000676.1:g.50735887A>G
GRCh37
NC_000014.7:g.49805637A>G
NCBI36
NG_008092.1:g.48061T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000267436.9:c.900T>C
MANE Select
ENSP00000267436.4:p.Ile300=
ENST00000261699.8:c.900T>C
ENSP00000261699.4:p.Ile300=
ENST00000267436.8:c.900T>C
ENSP00000267436.4:p.Ile300=
ENST00000421284.7:c.900T>C
ENSP00000405559.3:p.Ile300=
NM_024884.2:c.900T>C
NP_079160.1:p.Ile300=
XM_005268075.3:c.900T>C
XP_005268132.1:p.Ile300=
XM_011537166.1:c.789T>C
XP_011535468.1:p.Ile263=
XM_011537167.1:c.765T>C
XP_011535469.1:p.Ile255=
XM_011537168.1:c.354T>C
XP_011535470.1:p.Ile118=
XM_011537169.1:c.354T>C
XP_011535471.1:p.Ile118=
XM_005268075.5:c.900T>C
XP_005268132.1:p.Ile300=
XM_011537166.3:c.789T>C
XP_011535468.1:p.Ile263=
XM_011537167.3:c.765T>C
XP_011535469.1:p.Ile255=
XM_011537168.3:c.354T>C
XP_011535470.1:p.Ile118=
XM_017021655.2:c.789T>C
XP_016877144.1:p.Ile263=
XM_017021656.2:c.354T>C
XP_016877145.1:p.Ile118=
XM_017021657.2:c.354T>C
XP_016877146.1:p.Ile118=
NM_024884.3:c.900T>C
MANE Select
NP_079160.1:p.Ile300=