Canonical Allele Identifier: CA1251339

Gene: SERPINC1

Linked Data

• dbSNP Id: rs775538183
• ExAC: 1:173879102 A / G
• gnomAD v2: 1-173879102-A-G
• gnomAD v4: 1-173909964-A-G
• MyVariant Identifiers: chr1:g.173879102A>G (hg19) ; chr1:g.173909964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909964A>G , CM000663.2:g.173909964A>G	GRCh38
NC_000001.10:g.173879102A>G , CM000663.1:g.173879102A>G	GRCh37
NC_000001.9:g.172145725A>G	NCBI36
NG_012462.1:g.12415T>C , LRG_577:g.12415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.763-22T>C MANE Select	ENSP00000356671.3:n.763-22T>C
ENST00000367698.3:c.763-22T>C	ENSP00000356671.3:n.763-22T>C
ENST00000487183.1:n.414-22T>C
ENST00000617423.4:c.559+1900T>C	ENSP00000478688.1:n.559+1900T>C
NM_000488.3:c.763-22T>C , LRG_577t1:c.763-22T>C	NP_000479.1:n.763-22T>C
XM_005245198.2:c.619-22T>C	XP_005245255.1:n.619-22T>C
NM_001365052.1:c.619-22T>C	NP_001351981.1:n.619-22T>C
NM_000488.4:c.763-22T>C MANE Select	NP_000479.1:n.763-22T>C
NM_001365052.2:c.619-22T>C	NP_001351981.1:n.619-22T>C
NM_001386302.1:c.886-22T>C	NP_001373231.1:n.886-22T>C
NM_001386303.1:c.844-22T>C	NP_001373232.1:n.844-22T>C
NM_001386304.1:c.742-22T>C	NP_001373233.1:n.742-22T>C
NM_001386305.1:c.763-79T>C	NP_001373234.1:n.763-79T>C
NM_001386306.1:c.547-22T>C	NP_001373235.1:n.547-22T>C