Linked Data
ClinVar Variation Id:
393463
ClinVar RCV Id:
RCV000445388
dbSNP Id:
rs1057519638
gnomAD v4:
9-842170-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.842170G>T , CM000671.2:g.842170G>T | GRCh38 |
| NC_000009.11:g.842170G>T , CM000671.1:g.842170G>T | GRCh37 |
| NC_000009.10:g.832170G>T | NCBI36 |
| NG_009221.1:g.5481G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.332G>T MANE Select | ENSP00000371711.3:p.Arg111Met | |
| ENST00000382276.7:c.332G>T | ENSP00000371711.3:p.Arg111Met | |
| ENST00000564322.1:n.481G>T | ||
| NM_021951.2:c.332G>T | NP_068770.2:p.Arg111Met | |
| XM_006716732.1:c.332G>T | XP_006716795.1:p.Arg111Met | |
| XM_017014375.1:c.332G>T | XP_016869864.1:p.Arg111Met | |
| NM_021951.3:c.332G>T MANE Select | NP_068770.2:p.Arg111Met |