Linked Data
ClinVar Variation Id:
538254
dbSNP Id:
rs754810505
ExAC:
2:29519784 A / G
gnomAD v2:
2-29519784-A-G
gnomAD v3:
2-29296918-A-G
gnomAD v4:
2-29296918-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29296918A>G , CM000664.2:g.29296918A>G | GRCh38 |
| NC_000002.11:g.29519784A>G , CM000664.1:g.29519784A>G | GRCh37 |
| NC_000002.10:g.29373288A>G | NCBI36 |
| NG_009445.1:g.629649T>C , LRG_488:g.629649T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1787T>C MANE Select | ENSP00000373700.3:p.Met596Thr | |
| ENST00000389048.7:c.1787T>C | ENSP00000373700.3:p.Met596Thr | |
| ENST00000498037.1:n.342T>C | ||
| ENST00000618119.4:c.656T>C | ENSP00000482733.1:p.Met219Thr | |
| NM_004304.4:c.1787T>C | NP_004295.2:p.Met596Thr | |
| XR_001738688.2:n.2717T>C | ||
| NM_004304.5:c.1787T>C MANE Select | NP_004295.2:p.Met596Thr |