Linked Data - NCBI & NCI

dbSNP:

1326238748

Linked Data - Sequence & Population

gnomAD v2:

14:74754558 G / A

gnomAD v4:

chr14-74287855-G-A

Joint Max Group AF 0.000001 (NFE)

Exomes Max Group AF 0.000001 (NFE)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr14:g.74287855G>A

GRCh37 chr14:g.74754558G>A

Revel Score:

ENST00000356924 (MANE Select) 0.968

ENST00000298816 0.968

ENST00000556517 0.537