Canonical Allele Identifier: CA2697554662
Community Standard Title: NM_000488.4(SERPINC1):c.762+19G>C
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173910735C>G , CM000663.2:g.173910735C>G GRCh38
NC_000001.10:g.173879873C>G , CM000663.1:g.173879873C>G GRCh37
NC_000001.9:g.172146496C>G NCBI36
NG_012462.1:g.11644G>C , LRG_577:g.11644G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000488.4:c.762+19G>C MANE Select NP_000479.1:n.762+19G>C
ENST00000367698.4:c.762+19G>C MANE Select ENSP00000356671.3:n.762+19G>C
NM_000488.3:c.762+19G>C , LRG_577t1:c.762+19G>C NP_000479.1:n.762+19G>C
NM_001365052.1:c.618+19G>C NP_001351981.1:n.618+19G>C
NM_001365052.2:c.618+19G>C NP_001351981.1:n.618+19G>C
NM_001386302.1:c.781G>C NP_001373231.1:p.Glu261Gln
NM_001386303.1:c.843+19G>C NP_001373232.1:n.843+19G>C
NM_001386304.1:c.741+40G>C NP_001373233.1:n.741+40G>C
NM_001386305.1:c.762+19G>C NP_001373234.1:n.762+19G>C
NM_001386306.1:c.546+19G>C NP_001373235.1:n.546+19G>C
ENST00000367698.3:c.762+19G>C ENSP00000356671.3:n.762+19G>C
ENST00000487183.1:n.413+19G>C
ENST00000617423.4:c.559+1129G>C ENSP00000478688.1:n.559+1129G>C
XM_005245198.2:c.618+19G>C XP_005245255.1:n.618+19G>C