×
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_000018.10:g.23539828C>A , CM000680.2:g.23539828C>A
GRCh38
NC_000018.9:g.21119792C>A , CM000680.1:g.21119792C>A
GRCh37
NC_000018.8:g.19373790C>A
NCBI36
NG_012795.1:g.51790G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000269228.10:c.2778G>T
MANE Select
ENSP00000269228.4:p.Ala926=
ENST00000269228.9:c.2778G>T
ENSP00000269228.4:p.Ala926=
ENST00000540608.5:n.2692G>T
ENST00000586718.1:n.569G>T
ENST00000591051.1:c.1856G>T
ENST00000591075.1:n.71G>T
NM_000271.4:c.2778G>T
NP_000262.2:p.Ala926=
XM_005258277.1:c.2829G>T
XP_005258334.1:p.Ala943=
XM_005258278.3:c.2829G>T
XP_005258335.1:p.Ala943=
XM_005258279.1:c.2778G>T
XP_005258336.1:p.Ala926=
XM_006722479.2:c.2829G>T
XP_006722542.1:p.Ala943=
XM_011526015.1:c.2364G>T
XP_011524317.1:p.Ala788=
XM_005258278.5:c.2829G>T
XP_005258335.1:p.Ala943=
XM_005258279.2:c.2778G>T
XP_005258336.1:p.Ala926=
XM_006722479.3:c.2829G>T
XP_006722542.1:p.Ala943=
XM_017025784.1:c.2829G>T
XP_016881273.1:p.Ala943=
XM_017025785.1:c.2829G>T
XP_016881274.1:p.Ala943=
XM_017025786.1:c.2778G>T
XP_016881275.1:p.Ala926=
XM_017025787.1:c.2778G>T
XP_016881276.1:p.Ala926=
NM_000271.5:c.2778G>T
MANE Select
NP_000262.2:p.Ala926=