Linked Data
gnomAD v4:
1-94008160-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008160G>C , CM000663.2:g.94008160G>C | GRCh38 |
| NC_000001.10:g.94473716G>C , CM000663.1:g.94473716G>C | GRCh37 |
| NC_000001.9:g.94246304G>C | NCBI36 |
| NG_009073.1:g.117990C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5898+75C>G MANE Select | ENSP00000359245.3:n.5898+75C>G | |
| ENST00000370225.3:c.5898+75C>G | ENSP00000359245.3:n.5898+75C>G | |
| ENST00000465352.1:n.314+75C>G | ||
| ENST00000536513.5:c.2274+75C>G | ENSP00000439707.2:n.2274+75C>G | |
| NM_000350.2:c.5898+75C>G | NP_000341.2:n.5898+75C>G | |
| NM_000350.3:c.5898+75C>G MANE Select | NP_000341.2:n.5898+75C>G |