Linked Data
ClinVar Variation Id:
2296849
ClinVar RCV Id:
RCV004140970
dbSNP Id:
rs549597401
ExAC:
1:55075410 C / T
gnomAD v2:
1-55075410-C-T
gnomAD v3:
1-54609737-C-T
gnomAD v4:
1-54609737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54609737C>T , CM000663.2:g.54609737C>T | GRCh38 |
| NC_000001.10:g.55075410C>T , CM000663.1:g.55075410C>T | GRCh37 |
| NC_000001.9:g.54847998C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302250.7:c.1289G>A (FAM151A) MANE Select | ENSP00000306888.2:p.Arg430His | |
| ENST00000343744.7:c.*625C>T (ACOT11) MANE Select | ENSP00000340260.2:n.*625C>T | |
| ENST00000302250.6:c.1289G>A (FAM151A) | ENSP00000306888.2:p.Arg430His | |
| ENST00000343744.6:c.*625C>T (ACOT11) | ENSP00000340260.2:n.*625C>T | |
| ENST00000371304.2:c.918-190G>A (FAM151A) | ENSP00000360353.2:n.918-190G>A | |
| ENST00000371316.3:c.1629+1669C>T (ACOT11) | ENSP00000360366.3:n.1629+1669C>T | |
| ENST00000481208.5:n.2488C>T (ACOT11) | ||
| NM_015547.3:c.1629+1669C>T (ACOT11) | NP_056362.1:n.1629+1669C>T | |
| NM_147161.3:c.*625C>T (ACOT11) | NP_671517.1:n.*625C>T | |
| NM_176782.2:c.1289G>A (FAM151A) | NP_788954.2:p.Arg430His | |
| XM_006710599.2:c.1211G>A (FAM151A) | XP_006710662.1:p.Arg404His | |
| XM_006710599.3:c.1211G>A (FAM151A) | XP_006710662.1:p.Arg404His | |
| NM_176782.3:c.1289G>A (FAM151A) MANE Select | NP_788954.2:p.Arg430His | |
| NM_015547.4:c.1629+1669C>T (ACOT11) | NP_056362.1:n.1629+1669C>T | |
| NM_147161.4:c.*625C>T (ACOT11) MANE Select | NP_671517.1:n.*625C>T |