Canonical Allele Identifier: CA338455009

Gene: TNFRSF1B

Linked Data

• dbSNP Id: rs1412009344
• gnomAD v2: 1-12252960-G-A
• gnomAD v4: 1-12192903-G-A
• MyVariant Identifiers: chr1:g.12252960G>A (hg19) ; chr1:g.12192903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12192903G>A , CM000663.2:g.12192903G>A	GRCh38
NC_000001.10:g.12252960G>A , CM000663.1:g.12252960G>A	GRCh37
NC_000001.9:g.12175547G>A	NCBI36
NG_029791.1:g.30901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376259.7:c.592G>A MANE Select	ENSP00000365435.3:p.Ala198Thr
ENST00000376259.6:c.592G>A	ENSP00000365435.3:p.Ala198Thr
ENST00000489921.1:n.304G>A
ENST00000492361.1:n.581G>A
NM_001066.2:c.592G>A	NP_001057.1:p.Ala198Thr
XM_011542060.1:c.592G>A	XP_011540362.1:p.Ala198Thr
XM_011542061.1:c.592G>A	XP_011540363.1:p.Ala198Thr
XM_011542062.1:c.571G>A	XP_011540364.1:p.Ala191Thr
XM_011542063.1:c.592G>A	XP_011540365.1:p.Ala198Thr
XM_011542060.2:c.592G>A	XP_011540362.1:p.Ala198Thr
XM_011542063.2:c.592G>A	XP_011540365.1:p.Ala198Thr
XM_017002211.1:c.592G>A	XP_016857700.1:p.Ala198Thr
XM_017002214.1:c.7G>A	XP_016857703.1:p.Ala3Thr
XM_017002215.1:c.7G>A	XP_016857704.1:p.Ala3Thr
NM_001066.3:c.592G>A MANE Select	NP_001057.1:p.Ala198Thr