Linked Data
gnomAD v4:
7-74789351-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789351C>G , CM000669.2:g.74789351C>G | GRCh38 |
| NC_000007.13:g.74203695C>G , CM000669.1:g.74203695C>G | GRCh37 |
| NC_000007.12:g.73841631C>G | NCBI36 |
| NG_009078.2:g.20388C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.10:c.*191C>G | ENSP00000289473.4:n.*191C>G | |
| NM_000265.5:c.*191C>G | NP_000256.4:n.*191C>G | |
| XM_005250543.3:c.*285C>G | XP_005250600.2:n.*285C>G | |
| XM_011516498.1:c.*238C>G | XP_011514800.1:n.*238C>G | |
| XM_011516501.1:c.*191C>G | XP_011514803.1:n.*191C>G | |
| NM_000265.6:c.*191C>G | NP_000256.4:n.*191C>G |