Linked Data
ClinVar Variation Id:
1612503
ClinVar RCV Id:
RCV002168682
dbSNP Id:
rs139035354
ExAC:
11:57367766 G / A
gnomAD v2:
11-57367766-G-A
gnomAD v3:
11-57600293-G-A
gnomAD v4:
11-57600293-G-A
COSMIC:
COSM277224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57600293G>A , CM000673.2:g.57600293G>A | GRCh38 |
| NC_000011.9:g.57367766G>A , CM000673.1:g.57367766G>A | GRCh37 |
| NC_000011.8:g.57124342G>A | NCBI36 |
| NG_009625.1:g.7740G>A , LRG_105:g.7740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.466G>A MANE Select | ENSP00000278407.4:p.Ala156Thr | |
| ENST00000528996.2:c.58+1965G>A | ENSP00000431226.2:n.58+1965G>A | |
| ENST00000531605.2:c.52-1742G>A | ENSP00000503752.1:n.52-1742G>A | |
| ENST00000619430.2:c.466G>A | ENSP00000478572.2:p.Ala156Thr | |
| ENST00000676670.1:c.466G>A | ENSP00000504807.1:p.Ala156Thr | |
| ENST00000676741.1:n.1548G>A | ||
| ENST00000677275.1:n.453G>A | ||
| ENST00000677624.1:c.466G>A | ENSP00000503979.1:p.Ala156Thr | |
| ENST00000677625.1:c.466G>A | ENSP00000502857.1:p.Ala156Thr | |
| ENST00000677856.1:n.525G>A | ||
| ENST00000677915.1:c.466G>A | ENSP00000503118.1:p.Ala156Thr | |
| ENST00000678533.1:c.52-1742G>A | ENSP00000503873.1:n.52-1742G>A | |
| ENST00000678592.1:c.466G>A | ENSP00000504424.1:p.Ala156Thr | |
| ENST00000278407.8:c.466G>A | ENSP00000278407.4:p.Ala156Thr | |
| ENST00000340687.10:c.466G>A | ENSP00000341861.6:p.Ala156Thr | |
| ENST00000378323.8:c.481G>A | ENSP00000367574.4:p.Ala161Thr | |
| ENST00000378324.6:c.310G>A | ENSP00000367575.2:p.Ala104Thr | |
| ENST00000403558.1:c.568G>A | ENSP00000384420.1:p.Ala190Thr | |
| ENST00000405496.5:c.466G>A | ENSP00000384561.1:p.Ala156Thr | |
| ENST00000531133.5:c.52-1742G>A | ENSP00000435431.1:n.52-1742G>A | |
| ENST00000531797.5:c.52-1742G>A | ENSP00000432554.1:n.52-1742G>A | |
| ENST00000619430.1:c.348+118G>A | ENSP00000478572.1:n.348+118G>A | |
| NM_000062.2:c.466G>A , LRG_105t1:c.466G>A | NP_000053.2:p.Ala156Thr | |
| NM_001032295.1:c.466G>A | NP_001027466.1:p.Ala156Thr | |
| NM_000062.3:c.466G>A MANE Select | NP_000053.2:p.Ala156Thr | |
| NM_001032295.2:c.466G>A | NP_001027466.1:p.Ala156Thr |