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Linked Data
ClinVar Variation Id:
98440
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13615652G>A , CM000674.2:g.13615652G>A
GRCh38
NC_000012.11:g.13768586G>A , CM000674.1:g.13768586G>A
GRCh37
NC_000012.10:g.13659853G>A
NCBI36
NG_031854.1:g.369437C>T
NG_031854.2:g.371361C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.1341C>T
MANE Select
ENSP00000477455.1:p.Asp447=
ENST00000630791.2:c.1341C>T
ENSP00000486677.2:p.Asp447=
ENST00000609686.3:c.1341C>T
ENSP00000477455.1:p.Asp447=
NM_000834.3:c.1341C>T
NP_000825.2:p.Asp447=
XM_011520628.1:c.1341C>T
XP_011518930.1:p.Asp447=
XM_011520629.1:c.1341C>T
XP_011518931.1:p.Asp447=
XM_011520630.1:c.1341C>T
XP_011518932.1:p.Asp447=
XR_931372.1:n.307+426G>A
XR_931373.1:n.447+426G>A
XR_931374.1:n.246+426G>A
NM_000834.4:c.1341C>T
NP_000825.2:p.Asp447=
XM_011520628.2:c.1341C>T
XP_011518930.1:p.Asp447=
XM_011520629.2:c.1341C>T
XP_011518931.1:p.Asp447=
XM_017019219.2:c.1341C>T
XP_016874708.1:p.Asp447=
XR_001749013.1:n.728+426G>A
XR_931372.2:n.444+426G>A
XR_931373.2:n.586+426G>A
NM_000834.5:c.1341C>T
MANE Select
NP_000825.2:p.Asp447=