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Linked Data
ClinVar Variation Id:
44652
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.30672350C>T , CM000665.2:g.30672350C>T
GRCh38
NC_000003.11:g.30713842C>T , CM000665.1:g.30713842C>T
GRCh37
NC_000003.10:g.30688846C>T
NCBI36
NG_007490.1:g.70849C>T , LRG_779:g.70849C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1167C>T
MANE Select
ENSP00000295754.5:p.Asn389=
ENST00000672866.1:n.2763C>T
ENST00000295754.9:c.1167C>T
ENSP00000295754.5:p.Asn389=
ENST00000359013.4:c.1242C>T
ENSP00000351905.4:p.Asn414=
NM_001024847.2:c.1242C>T , LRG_779t1:c.1242C>T
NP_001020018.1:p.Asn414=
NM_003242.5:c.1167C>T
NP_003233.4:p.Asn389=
XM_011534043.1:c.1194C>T
XP_011532345.1:p.Asn398=
XM_011534044.1:c.1119C>T
XP_011532346.1:p.Asn373=
XM_011534045.1:c.1062C>T
XP_011532347.1:p.Asn354=
XM_011534043.2:c.1194C>T
XP_011532345.1:p.Asn398=
XM_011534045.3:c.1062C>T
XP_011532347.1:p.Asn354=
XM_017007106.1:c.1062C>T
XP_016862595.1:p.Asn354=
NM_003242.6:c.1167C>T
MANE Select
NP_003233.4:p.Asn389=