Canonical Allele Identifier: CA1251411
Community Standard Title: NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala)
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173911984T>C , CM000663.2:g.173911984T>C GRCh38
NC_000001.10:g.173881122T>C , CM000663.1:g.173881122T>C GRCh37
NC_000001.9:g.172147745T>C NCBI36
NG_012462.1:g.10395A>G , LRG_577:g.10395A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000488.4:c.439A>G MANE Select NP_000479.1:p.Thr147Ala
ENST00000367698.4:c.439A>G MANE Select ENSP00000356671.3:p.Thr147Ala
NM_000488.3:c.439A>G , LRG_577t1:c.439A>G NP_000479.1:p.Thr147Ala
NM_001365052.1:c.295A>G NP_001351981.1:p.Thr99Ala
NM_001365052.2:c.295A>G NP_001351981.1:p.Thr99Ala
NM_001386302.1:c.439A>G NP_001373231.1:p.Thr147Ala
NM_001386303.1:c.520A>G NP_001373232.1:p.Thr174Ala
NM_001386304.1:c.439A>G NP_001373233.1:p.Thr147Ala
NM_001386305.1:c.439A>G NP_001373234.1:p.Thr147Ala
NM_001386306.1:c.409-1093A>G NP_001373235.1:n.409-1093A>G
ENST00000367698.3:c.439A>G ENSP00000356671.3:p.Thr147Ala
ENST00000487183.1:n.144A>G
ENST00000494024.1:n.665A>G
ENST00000617423.4:c.439A>G ENSP00000478688.1:p.Thr147Ala
XM_005245198.2:c.295A>G XP_005245255.1:p.Thr99Ala