Linked Data
dbSNP Id:
rs35704214
gnomAD v2:
7-45953285-T-C
gnomAD v3:
7-45913686-T-C
gnomAD v4:
7-45913686-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45913686T>C , CM000669.2:g.45913686T>C | GRCh38 |
| NC_000007.13:g.45953285T>C , CM000669.1:g.45953285T>C | GRCh37 |
| NC_000007.12:g.45919810T>C | NCBI36 |
| NG_011508.1:g.12587A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613132.5:c.*164A>G MANE Select | ENSP00000477772.2:n.*164A>G | |
| ENST00000381083.9:c.*164A>G | ENSP00000370473.4:n.*164A>G | |
| ENST00000275521.10:c.*164A>G | ENSP00000275521.5:n.*164A>G | |
| ENST00000381086.9:c.*164A>G | ENSP00000370476.4:n.*164A>G | |
| ENST00000613132.4:c.977A>G | ENSP00000477772.1:n.977A>G | |
| NM_000598.4:c.*164A>G | NP_000589.2:n.*164A>G | |
| NM_001013398.1:c.*164A>G | NP_001013416.1:n.*164A>G | |
| NM_001013398.2:c.*164A>G | NP_001013416.1:n.*164A>G | |
| NM_000598.5:c.*164A>G MANE Select | NP_000589.2:n.*164A>G |