Linked Data
ClinVar Variation Id:
402150
ClinVar RCV Id:
RCV000454202
dbSNP Id:
rs763757845
ExAC:
12:110206018 A / T
gnomAD v2:
12-110206018-A-T
gnomAD v3:
12-109768213-A-T
gnomAD v4:
12-109768213-A-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109768213A>T , CM000674.2:g.109768213A>T | GRCh38 |
| NC_000012.11:g.110206018A>T , CM000674.1:g.110206018A>T | GRCh37 |
| NC_000012.10:g.108690401A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000538780.2:c.284A>T (FAM222A) MANE Select | ENSP00000443292.1:p.His95Leu | |
| ENST00000358906.3:c.284A>T (FAM222A) | ENSP00000351783.3:p.His95Leu | |
| ENST00000538780.1:c.284A>T (FAM222A) | ENSP00000443292.1:p.His95Leu | |
| NM_032829.2:c.284A>T (FAM222A) | NP_116218.2:p.His95Leu | |
| NR_026661.2:n.191+5084T>A (FAM222A-AS1) | ||
| NR_026662.2:n.191+5084T>A (FAM222A-AS1) | ||
| XM_006719654.2:c.284A>T (FAM222A) | XP_006719717.1:p.His95Leu | |
| XM_017020055.1:c.284A>T (FAM222A) | XP_016875544.1:p.His95Leu | |
| XM_024449229.1:c.182A>T (FAM222A) | XP_024304997.1:p.His61Leu | |
| NM_032829.3:c.284A>T (FAM222A) MANE Select | NP_116218.2:p.His95Leu |