ClinVar

NM_152327.5(AK7):c.1627G>A (p.Val543Met)

Gene:

AK7:adenylate kinase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.2

Genomic location:

• Chr14: 96478536 (on Assembly GRCh38)
• Chr14: 96944873 (on Assembly GRCh37)

Preferred name:

NM_152327.5(AK7):c.1627G>A (p.Val543Met)

HGVS:

• NC_000014.9:g.96478536G>A
• NG_054631.1:g.91426G>A
• NM_001350888.2:c.1558G>A
• NM_001350890.2:c.1558G>A
• NM_001350891.2:c.1549G>A
• NM_001350892.2:c.1429G>A
• NM_152327.2:c.1627G>A
• NM_152327.5:c.1627G>AMANE SELECT
• NP_001337817.1:p.Val520Met
• NP_001337819.1:p.Val520Met
• NP_001337820.1:p.Val517Met
• NP_001337821.1:p.Val477Met
• NP_689540.2:p.Val543Met
• NC_000014.8:g.96944873G>A

This HGVS expression did not pass validation

Protein change:

V477M

Molecular consequence:

• NM_001350888.2:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350890.2:c.1558G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350891.2:c.1549G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350892.2:c.1429G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152327.5:c.1627G>A - missense variant - [Sequence Ontology: SO:0001583]