Canonical Allele Identifier: CA3587526
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286282
ClinVar RCV Id: RCV000314767
dbSNP Id: rs200977367
ExAC: 5:177419968 G / A
gnomAD v2: 5-177419968-G-A
gnomAD v3: 5-177992967-G-A
gnomAD v4: 5-177992967-G-A
COSMIC: COSM1066437
MyVariant Identifiers: chr5:g.177419968G>A (hg19) chr5:g.177992967G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992967G>A , CM000667.2:g.177992967G>A GRCh38
NC_000005.9:g.177419968G>A , CM000667.1:g.177419968G>A GRCh37
NC_000005.8:g.177352574G>A NCBI36
NG_015889.1:g.8276C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308304.2:c.423C>T MANE Select ENSP00000311290.2:p.Ala141=
NM_006261.4:c.423C>T NP_006252.3:p.Ala141=
NM_006261.5:c.423C>T MANE Select NP_006252.4:p.Ala141=
Search 100 bp 5'
Search 100 bp 3'