Linked Data
ClinVar Variation Id:
92660
dbSNP Id:
rs398123262
gnomAD v3:
4-52038259-T-C
gnomAD v4:
4-52038259-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038259T>C , CM000666.2:g.52038259T>C | GRCh38 |
| NC_000004.11:g.52904425T>C , CM000666.1:g.52904425T>C | GRCh37 |
| NC_000004.10:g.52599182T>C | NCBI36 |
| NG_008891.1:g.5061A>G , LRG_204:g.5061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.1A>G MANE Select | ENSP00000370839.6:p.Met1Val | |
| ENST00000381431.9:c.1A>G | ENSP00000370839.5:p.Met1Val | |
| NM_000232.4:c.1A>G , LRG_204t1:c.1A>G | NP_000223.1:p.Met1Val | |
| XM_011534403.1:c.1A>G | XP_011532705.1:p.Met1Val | |
| NM_000232.5:c.1A>G MANE Select | NP_000223.1:p.Met1Val |