Canonical Allele Identifier: CA255571
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 10844
dbSNP Id: rs104894753

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906621C>T , CM000685.2:g.153906621C>T GRCh38
NC_000023.9:g.152825269C>T NCBI36
NC_000023.10:g.153172075C>T , CM000685.1:g.153172075C>T GRCh37
NG_008687.1:g.6648C>T
NG_009645.3:g.7603G>A
NG_013220.1:g.24640G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337474.5:c.1009C>T ENSP00000338072.5:p.Arg337Ter
ENST00000358927.6:c.1009C>T ENSP00000351805.2:p.Arg337Ter
ENST00000370049.1:c.*185C>T ENSP00000359066.1:p.=
ENST00000430697.1:c.921C>T ENSP00000393513.1:p.Cys307=
ENST00000434679.5:c.*375C>T ENSP00000393397.1:p.=
ENST00000464967.5:n.154+2449G>A
NM_000054.4:c.1009C>T NP_000045.1:p.Arg337Ter
NM_001146151.1:c.*185C>T NP_001139623.1:p.=
NR_027419.1:n.1056C>T
XM_006724828.2:c.1009C>T XP_006724891.1:p.Arg337Ter