Linked Data
ClinVar Variation Id:
242615
dbSNP Id:
rs141340466
ExAC:
12:57894189 G / A
gnomAD v2:
12-57894189-G-A
gnomAD v3:
12-57500406-G-A
gnomAD v4:
12-57500406-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57500406G>A , CM000674.2:g.57500406G>A | GRCh38 |
| NC_000012.11:g.57894189G>A , CM000674.1:g.57894189G>A | GRCh37 |
| NC_000012.10:g.56180456G>A | NCBI36 |
| NG_034077.1:g.17454G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262027.10:c.1177G>A MANE Select | ENSP00000262027.5:p.Ala393Thr | |
| ENST00000262027.9:c.1177G>A | ENSP00000262027.5:p.Ala393Thr | |
| ENST00000447721.6:n.819G>A | ||
| ENST00000537638.6:c.1177G>A | ENSP00000446168.2:p.Ala393Thr | |
| ENST00000545888.6:c.*678G>A | ENSP00000439307.2:n.*678G>A | |
| ENST00000548944.1:c.49G>A | ENSP00000449071.1:p.Ala17Thr | |
| ENST00000549827.1:n.293G>A | ||
| ENST00000551892.1:c.*542G>A | ENSP00000450018.1:n.*542G>A | |
| ENST00000552371.1:c.675G>A | ||
| ENST00000628866.2:c.*678G>A | ENSP00000486738.1:n.*678G>A | |
| NM_004990.3:c.1177G>A | NP_004981.2:p.Ala393Thr | |
| XM_006719398.2:c.475G>A | XP_006719461.1:p.Ala159Thr | |
| XM_011538353.1:c.1177G>A | XP_011536655.1:p.Ala393Thr | |
| XM_006719398.4:c.475G>A | XP_006719461.1:p.Ala159Thr | |
| XR_001748704.2:n.1200G>A | ||
| XR_002957327.1:n.1124G>A | ||
| NM_004990.4:c.1177G>A MANE Select | NP_004981.2:p.Ala393Thr |