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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.23556333G>A , CM000680.2:g.23556333G>A
GRCh38
NC_000018.9:g.21136297G>A , CM000680.1:g.21136297G>A
GRCh37
NC_000018.8:g.19390295G>A
NCBI36
NG_012795.1:g.35285C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269228.10:c.1236C>T
MANE Select
ENSP00000269228.4:p.Ala412=
ENST00000269228.9:c.1236C>T
ENSP00000269228.4:p.Ala412=
ENST00000540608.5:n.1150C>T
ENST00000591051.1:c.518C>T
NM_000271.4:c.1236C>T
NP_000262.2:p.Ala412=
XM_005258277.1:c.1287C>T
XP_005258334.1:p.Ala429=
XM_005258278.3:c.1287C>T
XP_005258335.1:p.Ala429=
XM_005258279.1:c.1236C>T
XP_005258336.1:p.Ala412=
XM_006722479.2:c.1287C>T
XP_006722542.1:p.Ala429=
XM_011526015.1:c.822C>T
XP_011524317.1:p.Ala274=
XM_005258278.5:c.1287C>T
XP_005258335.1:p.Ala429=
XM_005258279.2:c.1236C>T
XP_005258336.1:p.Ala412=
XM_006722479.3:c.1287C>T
XP_006722542.1:p.Ala429=
XM_017025784.1:c.1287C>T
XP_016881273.1:p.Ala429=
XM_017025785.1:c.1287C>T
XP_016881274.1:p.Ala429=
XM_017025786.1:c.1236C>T
XP_016881275.1:p.Ala412=
XM_017025787.1:c.1236C>T
XP_016881276.1:p.Ala412=
NM_000271.5:c.1236C>T
MANE Select
NP_000262.2:p.Ala412=