Linked Data
ClinVar Variation Id:
565604
dbSNP Id:
rs200586695
ExAC:
12:33021917 C / T
gnomAD v2:
12-33021917-C-T
gnomAD v3:
12-32868983-C-T
gnomAD v4:
12-32868983-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32868983C>T , CM000674.2:g.32868983C>T | GRCh38 |
| NC_000012.11:g.33021917C>T , CM000674.1:g.33021917C>T | GRCh37 |
| NC_000012.10:g.32913184C>T | NCBI36 |
| NG_009000.1:g.32864G>A , LRG_398:g.32864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1114G>A | ENSP00000515065.2:p.Ala372Thr | |
| ENST00000700563.2:c.1114G>A | ENSP00000515066.2:p.Ala372Thr | |
| ENST00000700559.1:c.329G>A | ||
| ENST00000700560.1:n.329G>A | ||
| ENST00000700561.1:n.455G>A | ||
| ENST00000700563.1:c.1068G>A | ||
| ENST00000700564.1:n.1118G>A | ||
| ENST00000700565.1:n.967G>A | ||
| ENST00000070846.11:c.1114G>A | ENSP00000070846.6:p.Ala372Thr | |
| ENST00000340811.9:c.1114G>A MANE Select | ENSP00000342800.5:p.Ala372Thr | |
| ENST00000070846.10:c.1114G>A | ENSP00000070846.6:p.Ala372Thr | |
| ENST00000340811.8:c.1114G>A | ENSP00000342800.4:p.Ala372Thr | |
| ENST00000613243.1:c.1114G>A | ENSP00000478295.1:p.Ala372Thr | |
| NM_001005242.2:c.1114G>A | NP_001005242.2:p.Ala372Thr | |
| NM_004572.3:c.1114G>A , LRG_398t1:c.1114G>A | NP_004563.2:p.Ala372Thr | |
| NM_001005242.3:c.1114G>A MANE Select | NP_001005242.2:p.Ala372Thr | |
| NM_004572.4:c.1114G>A | NP_004563.2:p.Ala372Thr |