Linked Data
ClinVar Variation Id:
367205
ClinVar RCV Id:
RCV000335650
dbSNP Id:
rs768354829
ExAC:
9:6645350 C / T
gnomAD v2:
9-6645350-C-T
gnomAD v3:
9-6645350-C-T
gnomAD v4:
9-6645350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6645350C>T , CM000671.2:g.6645350C>T | GRCh38 |
| NC_000009.11:g.6645350C>T , CM000671.1:g.6645350C>T | GRCh37 |
| NC_000009.10:g.6635350C>T | NCBI36 |
| NG_016397.1:g.5343G>A , LRG_643:g.5343G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.150G>A MANE Select | ENSP00000370737.4:p.Ser50= | |
| ENST00000321612.6:c.150G>A | ENSP00000370737.3:p.Ser50= | |
| NM_000170.2:c.150G>A , LRG_643t1:c.150G>A | NP_000161.2:p.Ser50= | |
| XM_024447726.1:c.361C>T | XP_024303494.1:p.Arg121Ter | |
| NM_000170.3:c.150G>A MANE Select | NP_000161.2:p.Ser50= |