Canonical Allele Identifier: CA3587472
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 906955
ClinVar RCV Id: RCV001156453
dbSNP Id: rs749918250
ExAC: 5:177419673 G / A
gnomAD v2: 5-177419673-G-A
gnomAD v3: 5-177992672-G-A
gnomAD v4: 5-177992672-G-A
MyVariant Identifiers: chr5:g.177419673G>A (hg19) chr5:g.177992672G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992672G>A , CM000667.2:g.177992672G>A GRCh38
NC_000005.9:g.177419673G>A , CM000667.1:g.177419673G>A GRCh37
NC_000005.8:g.177352279G>A NCBI36
NG_015889.1:g.8571C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.*37C>T MANE Select ENSP00000311290.2:n.*37C>T
NM_006261.4:c.*37C>T NP_006252.3:n.*37C>T
NM_006261.5:c.*37C>T MANE Select NP_006252.4:n.*37C>T
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