Canonical Allele Identifier: CA126636
Gene: F13A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16532
ClinVar RCV Id: RCV000017996 RCV000017997 RCV000248039 RCV000374698 RCV000998517
dbSNP Id: rs5985
ExAC: 6:6318795 C / A
gnomAD v2: 6-6318795-C-A
gnomAD v3: 6-6318562-C-A
gnomAD v4: 6-6318562-C-A
MyVariant Identifiers: chr6:g.6318795C>A (hg19) chr6:g.6318562C>A (hg38)
PubMed: PMID:8025280 PMID:9459313 PMID:9550516 PMID:10365735 PMID:10910914 PMID:12072871 PMID:12456499 PMID:16740590 PMID:17393027
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.6318562C>A , CM000668.2:g.6318562C>A GRCh38
NC_000006.11:g.6318795C>A , CM000668.1:g.6318795C>A GRCh37
NC_000006.10:g.6263794C>A NCBI36
NG_008107.1:g.7130G>T , LRG_549:g.7130G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264870.8:c.103G>T MANE Select ENSP00000264870.3:p.Val35Leu
ENST00000264870.7:c.103G>T ENSP00000264870.3:p.Val35Leu
ENST00000414279.5:c.103G>T ENSP00000413334.1:p.Val35Leu
ENST00000431222.6:c.265G>T ENSP00000416295.2:p.Val89Leu
ENST00000451619.1:c.177G>T
NM_000129.3:c.103G>T , LRG_549t1:c.103G>T NP_000120.2:p.Val35Leu
XM_006715010.2:c.103G>T XP_006715073.1:p.Val35Leu
XM_011514342.1:c.265G>T XP_011512644.1:p.Val89Leu
NM_000129.4:c.103G>T MANE Select NP_000120.2:p.Val35Leu
Search 100 bp 5'
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