Linked Data
ClinVar Variation Id:
2169751
ClinVar RCV Id:
RCV003093244
dbSNP Id:
rs757375227
ExAC:
22:18561245 G / A
gnomAD v2:
22-18561245-G-A
gnomAD v3:
22-18078479-G-A
gnomAD v4:
22-18078479-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078479G>A , CM000684.2:g.18078479G>A | GRCh38 |
| NC_000022.10:g.18561245G>A , CM000684.1:g.18561245G>A | GRCh37 |
| NC_000022.9:g.16941245G>A | NCBI36 |
| NG_008339.1:g.5560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.103G>A MANE Select | ENSP00000382648.4:p.Val35Met | |
| ENST00000474897.6:c.103G>A | ENSP00000434235.2:p.Val35Met | |
| ENST00000329627.11:c.103G>A | ENSP00000331106.5:p.Val35Met | |
| ENST00000399744.7:c.103G>A | ENSP00000382648.3:p.Val35Met | |
| ENST00000428061.2:c.103G>A | ENSP00000412441.2:p.Val35Met | |
| ENST00000474897.5:c.103G>A | ENSP00000434235.1:p.Val35Met | |
| ENST00000610387.4:c.103G>A | ENSP00000482091.1:p.Val35Met | |
| NM_001127649.2:c.103G>A | NP_001121121.1:p.Val35Met | |
| NM_001199319.1:c.103G>A | NP_001186248.1:p.Val35Met | |
| NM_017929.5:c.103G>A | NP_060399.1:p.Val35Met | |
| NM_001127649.3:c.103G>A MANE Select | NP_001121121.1:p.Val35Met | |
| NM_001199319.2:c.103G>A | NP_001186248.1:p.Val35Met | |
| NM_017929.6:c.103G>A | NP_060399.1:p.Val35Met |