Linked Data
ClinVar Variation Id:
504413
ClinVar RCV Id:
RCV000599004
dbSNP Id:
rs1553337590
gnomAD v4:
2-44942105-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942105A>G , CM000664.2:g.44942105A>G | GRCh38 |
| NC_000002.11:g.45169244A>G , CM000664.1:g.45169244A>G | GRCh37 |
| NC_000002.10:g.45022748A>G | NCBI36 |
| NG_016222.1:g.5208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.1A>G MANE Select | ENSP00000260653.3:p.Met1Val | |
| ENST00000260653.4:c.1A>G | ENSP00000260653.3:p.Met1Val | |
| NM_005413.3:c.1A>G | NP_005404.1:p.Met1Val | |
| XM_011533042.1:c.1A>G | XP_011531344.1:p.Met1Val | |
| NM_005413.4:c.1A>G MANE Select | NP_005404.1:p.Met1Val |