Linked Data
ClinVar Variation Id:
17205
dbSNP Id:
rs1800255
ExAC:
2:189864080 G / A
gnomAD v2:
2-189864080-G-A
gnomAD v3:
2-188999354-G-A
gnomAD v4:
2-188999354-G-A
PubMed:
PMID:2235526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999354G>A , CM000664.2:g.188999354G>A | GRCh38 |
| NC_000002.11:g.189864080G>A , CM000664.1:g.189864080G>A | GRCh37 |
| NC_000002.10:g.189572325G>A | NCBI36 |
| NG_007404.1:g.29982G>A , LRG_3:g.29982G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.1993G>A | ENSP00000415346.2:p.Ala665Thr | |
| ENST00000304636.9:c.2092G>A MANE Select | ENSP00000304408.4:p.Ala698Thr | |
| ENST00000304636.7:c.2092G>A | ENSP00000304408.3:p.Ala698Thr | |
| ENST00000317840.9:c.2092G>A | ENSP00000315243.6:p.Ala698Thr | |
| NM_000090.3:c.2092G>A , LRG_3t1:c.2092G>A | NP_000081.1:p.Ala698Thr | |
| NM_000090.4:c.2092G>A MANE Select | NP_000081.2:p.Ala698Thr |