Linked Data
gnomAD v4:
1-94001813-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001813C>G , CM000663.2:g.94001813C>G | GRCh38 |
| NC_000001.10:g.94467369C>G , CM000663.1:g.94467369C>G | GRCh37 |
| NC_000001.9:g.94239957C>G | NCBI36 |
| NG_009073.1:g.124337G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.6282+45G>C MANE Select | ENSP00000359245.3:n.6282+45G>C | |
| ENST00000370225.3:c.6282+45G>C | ENSP00000359245.3:n.6282+45G>C | |
| ENST00000465352.1:n.743G>C | ||
| ENST00000536513.5:c.2658+45G>C | ENSP00000439707.2:n.2658+45G>C | |
| NM_000350.2:c.6282+45G>C | NP_000341.2:n.6282+45G>C | |
| NM_000350.3:c.6282+45G>C MANE Select | NP_000341.2:n.6282+45G>C |