Linked Data
gnomAD v4:
9-93953427-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93953427C>G , CM000671.2:g.93953427C>G | GRCh38 |
| NC_000009.11:g.96715709C>G , CM000671.1:g.96715709C>G | GRCh37 |
| NC_000009.10:g.95755530C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253968.11:c.224-240G>C MANE Select | ENSP00000253968.5:n.224-240G>C | |
| ENST00000253968.10:c.224-240G>C | ENSP00000253968.5:n.224-240G>C | |
| ENST00000401724.1:c.-479G>C | ENSP00000385613.1:n.-479G>C | |
| NM_021570.3:c.224-240G>C | NP_067545.3:n.224-240G>C | |
| NM_021570.4:c.224-240G>C MANE Select | NP_067545.3:n.224-240G>C |