Linked Data
gnomAD v4:
16-173121-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173121G>C , CM000678.2:g.173121G>C | GRCh38 |
| NC_000016.9:g.223120G>C , CM000678.1:g.223120G>C | GRCh37 |
| NC_000016.8:g.163120G>C | NCBI36 |
| NG_000006.1:g.33984G>C | |
| NG_059186.1:g.1471G>C | |
| NG_059271.1:g.5275G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.96-4G>C MANE Select | ENSP00000251595.6:n.96-4G>C | |
| ENST00000251595.10:c.96-4G>C | ENSP00000251595.6:n.96-4G>C | |
| ENST00000397806.1:c.-1-4G>C | ENSP00000380908.1:n.-1-4G>C | |
| ENST00000482565.1:n.228G>C | ||
| ENST00000484216.1:n.65-4G>C | ||
| NM_000517.4:c.96-4G>C | NP_000508.1:n.96-4G>C | |
| NM_000517.6:c.96-4G>C MANE Select | NP_000508.1:n.96-4G>C |