Linked Data
ClinVar Variation Id:
364876
dbSNP Id:
rs376265443
ExAC:
9:129376785 G / A
gnomAD v2:
9-129376785-G-A
gnomAD v3:
9-126614506-G-A
gnomAD v4:
9-126614506-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126614506G>A , CM000671.2:g.126614506G>A | GRCh38 |
| NC_000009.11:g.129376785G>A , CM000671.1:g.129376785G>A | GRCh37 |
| NC_000009.10:g.128416606G>A | NCBI36 |
| NG_017039.1:g.5064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.57G>A | ENSP00000347684.5:p.Thr19= | |
| ENST00000373474.9:c.57G>A MANE Select | ENSP00000362573.3:p.Thr19= | |
| ENST00000526117.6:c.57G>A | ENSP00000436930.1:p.Thr19= | |
| ENST00000355497.9:c.57G>A | ENSP00000347684.5:p.Thr19= | |
| ENST00000373474.8:c.57G>A | ENSP00000362573.3:p.Thr19= | |
| ENST00000526117.5:c.57G>A | ENSP00000436930.1:p.Thr19= | |
| ENST00000561065.1:c.-13G>A | ENSP00000453580.1:n.-13G>A | |
| NM_001174146.1:c.57G>A | NP_001167617.1:p.Thr19= | |
| NM_001174147.1:c.57G>A | NP_001167618.1:p.Thr19= | |
| NM_002316.3:c.57G>A | NP_002307.2:p.Thr19= | |
| NM_001174146.2:c.57G>A | NP_001167617.1:p.Thr19= | |
| NM_001174147.2:c.57G>A MANE Select | NP_001167618.1:p.Thr19= | |
| NM_002316.4:c.57G>A | NP_002307.2:p.Thr19= |