Canonical Allele Identifier: CA600839

Gene: TNFRSF1B

Linked Data

• dbSNP Id: rs758561163
• ExAC: 1:12252990 A / C
• gnomAD v2: 1-12252990-A-C
• gnomAD v4: 1-12192933-A-C
• MyVariant Identifiers: chr1:g.12252990A>C (hg19) ; chr1:g.12192933A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12192933A>C , CM000663.2:g.12192933A>C	GRCh38
NC_000001.10:g.12252990A>C , CM000663.1:g.12252990A>C	GRCh37
NC_000001.9:g.12175577A>C	NCBI36
NG_029791.1:g.30931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376259.7:c.622A>C MANE Select	ENSP00000365435.3:p.Ser208Arg
ENST00000376259.6:c.622A>C	ENSP00000365435.3:p.Ser208Arg
ENST00000489921.1:n.334A>C
ENST00000492361.1:n.611A>C
NM_001066.2:c.622A>C	NP_001057.1:p.Ser208Arg
XM_011542060.1:c.622A>C	XP_011540362.1:p.Ser208Arg
XM_011542061.1:c.622A>C	XP_011540363.1:p.Ser208Arg
XM_011542062.1:c.601A>C	XP_011540364.1:p.Ser201Arg
XM_011542063.1:c.622A>C	XP_011540365.1:p.Ser208Arg
XM_011542060.2:c.622A>C	XP_011540362.1:p.Ser208Arg
XM_011542063.2:c.622A>C	XP_011540365.1:p.Ser208Arg
XM_017002211.1:c.622A>C	XP_016857700.1:p.Ser208Arg
XM_017002214.1:c.37A>C	XP_016857703.1:p.Ser13Arg
XM_017002215.1:c.37A>C	XP_016857704.1:p.Ser13Arg
NM_001066.3:c.622A>C MANE Select	NP_001057.1:p.Ser208Arg