Linked Data
ClinVar Variation Id:
618158
dbSNP Id:
rs1468615416
gnomAD v2:
16-223126-T-G
gnomAD v3:
16-173127-T-G
gnomAD v4:
16-173127-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173127T>G , CM000678.2:g.173127T>G | GRCh38 |
| NC_000016.9:g.223126T>G , CM000678.1:g.223126T>G | GRCh37 |
| NC_000016.8:g.163126T>G | NCBI36 |
| NG_000006.1:g.33990T>G | |
| NG_059186.1:g.1477T>G | |
| NG_059271.1:g.5281T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.98T>G MANE Select | ENSP00000251595.6:p.Met33Arg | |
| ENST00000251595.10:c.98T>G | ENSP00000251595.6:p.Met33Arg | |
| ENST00000397806.1:c.2T>G | ENSP00000380908.1:p.Met1Arg | |
| ENST00000482565.1:n.234T>G | ||
| ENST00000484216.1:n.67T>G | ||
| NM_000517.4:c.98T>G | NP_000508.1:p.Met33Arg | |
| NM_000517.6:c.98T>G MANE Select | NP_000508.1:p.Met33Arg |