Canonical Allele Identifier: CA130147

Gene: NIN

Linked Data

• ClinVar Variation Id: 37291
• ClinVar RCV Id: RCV000030830
• dbSNP Id: rs387907308
• ExAC: 14:51211022 T / C
• gnomAD v2: 14-51211022-T-C
• gnomAD v3: 14-50744304-T-C
• gnomAD v4: 14-50744304-T-C
• MyVariant Identifiers: chr14:g.51211022T>C (hg19) ; chr14:g.50744304T>C (hg38)
• PubMed: PMID:22933543

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50744304T>C , CM000676.2:g.50744304T>C	GRCh38
NC_000014.8:g.51211022T>C , CM000676.1:g.51211022T>C	GRCh37
NC_000014.7:g.50280772T>C	NCBI36
NG_032968.1:g.91818A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000485005.2:c.2873A>G	ENSP00000431485.2:p.Asn958Ser
ENST00000706704.1:n.1307A>G
ENST00000706705.1:c.*379A>G	ENSP00000516508.1:n.*379A>G
ENST00000706706.1:c.2926-775A>G	ENSP00000516509.1:n.2926-775A>G
ENST00000706707.1:n.2695A>G
ENST00000706709.1:n.1478A>G
ENST00000453196.6:c.5126A>G	ENSP00000412391.1:p.Asn1709Ser
ENST00000530997.7:c.5126A>G MANE Select	ENSP00000436092.2:p.Asn1709Ser
ENST00000673657.1:c.*1791A>G	ENSP00000501199.1:n.*1791A>G
ENST00000674030.1:c.*1254A>G	ENSP00000501260.1:n.*1254A>G
ENST00000245441.9:c.5126A>G	ENSP00000245441.5:p.Asn1709Ser
ENST00000324330.13:c.2987A>G	ENSP00000324210.10:p.Asn996Ser
ENST00000382041.7:c.5126A>G	ENSP00000371472.3:p.Asn1709Ser
ENST00000382043.8:c.2987A>G	ENSP00000371474.4:p.Asn996Ser
ENST00000389869.7:c.3597A>G
ENST00000453196.5:c.5126A>G	ENSP00000412391.1:p.Asn1709Ser
ENST00000476352.5:c.5126A>G	ENSP00000432924.1:p.Asn1709Ser
ENST00000530853.5:c.3597A>G
ENST00000530997.6:c.5126A>G	ENSP00000436092.2:p.Asn1709Ser
NM_016350.4:c.2987A>G	NP_057434.4:p.Asn996Ser
NM_020921.3:c.5126A>G	NP_065972.3:p.Asn1709Ser
NM_182944.2:c.5126A>G	NP_891989.2:p.Asn1709Ser
NM_182946.1:c.5126A>G	NP_891991.1:p.Asn1709Ser
XM_005267735.3:c.2987A>G	XP_005267792.1:p.Asn996Ser
XM_006720160.2:c.5126A>G	XP_006720223.2:p.Asn1709Ser
XM_011536817.1:c.5216A>G	XP_011535119.1:p.Asn1739Ser
XM_011536818.1:c.5126A>G	XP_011535120.1:p.Asn1709Ser
XM_011536819.1:c.5216A>G	XP_011535121.1:p.Asn1739Ser
XM_011536820.1:c.5216A>G	XP_011535122.1:p.Asn1739Ser
XM_011536821.1:c.4460A>G	XP_011535123.1:p.Asn1487Ser
XM_011536822.1:c.3077A>G	XP_011535124.1:p.Asn1026Ser
XM_011536823.1:c.5144A>G	XP_011535125.1:p.Asn1715Ser
XM_011536824.1:c.2987A>G	XP_011535126.1:p.Asn996Ser
XM_011536819.3:c.5216A>G	XP_011535121.1:p.Asn1739Ser
XM_011536822.2:c.3077A>G	XP_011535124.1:p.Asn1026Ser
XM_011536823.2:c.5144A>G	XP_011535125.1:p.Asn1715Ser
XM_024449622.1:c.5216A>G	XP_024305390.1:p.Asn1739Ser
XR_001750344.2:n.5414A>G
XR_001750345.2:n.5414A>G
XR_001750346.2:n.5336A>G
XR_001750347.2:n.3269A>G
XR_001750348.2:n.3269A>G
XR_001750349.2:n.3197A>G
XR_001750350.2:n.3197A>G
NM_016350.5:c.2987A>G	NP_057434.4:p.Asn996Ser
NM_020921.4:c.5126A>G MANE Select	NP_065972.4:p.Asn1709Ser
NM_182944.3:c.5126A>G	NP_891989.3:p.Asn1709Ser
NM_182946.2:c.5126A>G	NP_891991.2:p.Asn1709Ser